ChromosOmics - Database

Icon by Leon Liehr                   

                                                              - REFERENCES -                                                        
sSMC in karyotypes with only 46 chromosomes

      0. Liehr et al. unpublished data
  1. Schwartz S, Depinet TW, Leana-Cox J, Isada NB, Karson EM, Park VM, Pasztor LM, Sheppard LC, Stallard R, Wolff DJ, Zinn AB, Zurcher VL, Zackowski JL.
    Sex chromosome markers: characterization using fluorescence in situ hybridization and review of the literature.
    Am J Med Genet. 1997 Jul 11;71(1):1-7.
  2. Callen DF, Eyre HJ, Dolman G, Garry-Battersby MB, McCreanor JR, Valeba A, McGill JJ.
    Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivation.
    J Med Genet. 1995 Feb;32(2):113-116.
  3. Cantu ES, Jacobs DF, Pai GS.
    An atypical Turner syndrome patient with ring X chromosome mosaicism.
    Ann Clin Lab Sci. 1995 Jan-Feb;25(1):60-65.
  4. Chandley AC, Edmond P, Christie S, Gowans L, Fletcher J, Frackiewicz A, Newton M.
    Cytogenetics and infertility in man. I. Karyotype and seminal analysis: results of a five-year survey of men attending a subfertility clinic.
    Ann Hum Genet. 1975 Oct;39(2):231-254.
  5. Cohen MM, Sandberg AA, Takagi N, MacGillivray MH.
    Autoradiographic investigations of centric fragments and rings in patients with stigmata of gonadal dysgenesis.
    Cytogenetics. 1967;6(3):254-267.
  6. Cooper C, Crolla JA, Laister C, Johnston DI, Cooke P.
    An investigation of ring and dicentric chromosomes found in three Turner's syndrome patients using DNA analysis and in situ hybridisation with X and Y chromosome specific probes.
    J Med Genet. 1991 Jan;28(1):6-9.
  7. Crolla JA, Dennis NR, Jacobs PA.
    A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man.
    J Med Genet. 1992 Oct;29(10):699-703.
  8. Engelen JJ, Loots WJ, Motoh PC, Moog U, Hamers GJ, Geraedts JP.
    Marker chromosome identification by micro-FISH.
    Clin Genet. 1996 May;49(5):242-248. Erratum in: Clin Genet 1996 Jun;49(6);333-334.
  9. Guttenbach M, Kohler J, Schmid M.
    Cytogenetic and molecular characterization of a small ring chromosome in the complex karyotype of a girl with Turner syndrome.
    Hum Genet. 1991 Oct;87(6):680-684.
  10. Jani MM, Torchia BS, Pai GS, Migeon BR.
    Molecular characterization of tiny ring X chromosomes from females with functional X chromosome disomy and lack of cis X inactivation.
    Genomics. 1995 May 1;27(1):182-188.
  11. Li MM, Howard-Peebles PN, Killos LD, Fallon L, Listgarten E, Stanley WS.
    Characterization and clinical implications of marker chromosomes identified at prenatal diagnosis.
    Prenat Diagn. 2000 Feb;20(2):138-143.
  12. Lin CC, Meyne J, Sasi R, Bowen P, Unger T, Tainaka T, Hadro TA, Hoo JJ.
    Determining the origins and the structural aberrations of small marker chromosomes in two cases of 45,X/46,X, + mar by use of chromosome-specific DNA probes.
    Am J Med Genet. 1990 Sep;37(1):71-78.
  13. McGinniss MJ, Brown DH, Burke LW, Mascarello JT, Jones MC.
    Ring chromosome X in a child with manifestations of Kabuki syndrome.
    Am J Med Genet. 1997 May 2;70(1):37-42.
  14. Migeon BR, Luo S, Stasiowski BA, Jani M, Axelman J, Van Dyke DL, Weiss L, Jacobs PA, Yang-Feng TL, Wiley JE.
    Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes.
    Proc Natl Acad Sci U S A. 1993 Dec 15;90(24):12025-12029.
  15. Van Dyke DL, Wiktor A, Palmer CG, Miller DA, Witt M, Babu VR, Worsham MJ, Roberson JR, Weiss L.
    Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation.
    Am J Med Genet. 1992 Aug 1;43(6):996-1005.
  16. Mulcahy MT, Jenkyn J.
    Results of 538 chromosome studies on patients referred for cytogenetic analysis.
    Med J Aust. 1972 Dec 9;2(24):1333-1338.
  17. Neu RL, O'Brien WF, Kousseff BG, Tedesco TA, Farmelo MJ, Essig YP, Miller KL, Nichols PM.
    Ultrasound identification of apparently normal male genitalia in a 46,X,+mar fetus.
    J Med Genet. 1987 Dec;24(12):782-783.
  18. Patsalis PC, Hadjimarcou MI, Velissariou V, Kitsiou-Tzeli S, Zera C, Syrrou M, Lyberatou E, Tsezou A, Galla A, Skordis N.
    Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome.
    Clin Genet. 1997 Mar;51(3):184-190.
  19. Patsalis PC, Sismani C, Hadjimarcou MI, Kitsiou-Tzeli S, Tzezou A, Hadjiathanasiou CG, Velissariou V, Lymberatou E, Moschonas NK, Skordis N.
    Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients.
    Clin Genet. 1998 Apr;53(4):249-257.
  20. Pezzolo A, Perroni L, Gimelli G, Arslanian A, Porta S, Gandullia P, Gandullia E.
    Identification of ring Y chromosome: cytogenetic analysis, Southern blot and fluorescent in situ hybridization.
    Ann Genet. 1993;36(2):121-125.
  21. Plattner R, Heerema NA, Yurov YB, Palmer CG.
    Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes.
    Hum Genet. 1993 Mar;91(2):131-140.
  22. Plattner R, Heerema NA, Howard-Peebles PN, Miles JH, Soukup S, Palmer CG.
    Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization.
    Hum Genet. 1993 Jul;91(6):589-598.
  23. Rivera H, Dominguez MG, Vasquez AI, Ramos AL, Fragoso R.
    Centromeric association of a microchromosome in a Turner syndrome patient with a pseudodicentric Y.
    Hum Genet. 1993 Nov;92(5):522-524.
  24. Rivera H, Ayala-Madrigal LM, Gutierrez-Angulo M, Vasquez AI, Ramos AL.
    Isodicentric Y chromosomes and secondary microchromosomes.
    Genet Couns. 2003;14(2):227-231.
  25. Schad CR, Kraker WJ, Jalal SM, Tallman MS, Londer HN, Cook LP, Jenkins RB.
    Use of fluorescent in situ hybridization for marker chromosome identification in congenital and neoplastic disorders.
    Am J Clin Pathol. 1991 Aug;96(2):203-210.
  26. Stavropoulou C, Mignon C, Delobel B, Moncla A, Depetris D, Croquette MF, Mattei MG.
    Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.
    J Med Genet. 1998 Nov;35(11):932-938.
  27. Wolff DJ, Brown CJ, Schwartz S, Duncan AM, Surti U, Willard HF.
    Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations.
    Am J Hum Genet. 1994 Jul;55(1):87-95.
  28. Woo HY, Cho HJ, Kong SY, Kim HJ, Jeon HB, Kim EC, Park H, Kim YJ, Kim SH.
    Marker chromosomes in Korean patients: incidence, identification and diagnostic approach.
    J Korean Med Sci. 2003 Dec;18(6):773-778.
  29. Wydner KL, Li M, Singer-Granick C, Sciorra LJ, Krueger LJ.
    X microchromosome with additional chromosome anomalies found in Ullrich-Turner syndrome.
    Am J Med Genet. 1995 Mar 27;56(2):141-146.
  30. Crolla JA, Llerena JC Jr.
    A mosaic 45,X/46,X,r(?) karyotype investigated with X and Y centromere-specific probes using a non-autoradiographic in situ hybridization technique.
    Hum Genet. 1988 Dec;81(1):81-84.
  31. Crolla JA, Smith M, Docherty Z.
    Identification and characterisation of a small marker chromosome using non-isotopic in situ hybridisation with X and Y specific probes.
    J Med Genet. 1989 Mar;26(3):192-194.
  32. Kozma R, Fear C, Adinolfi M.
    Fluorescence in situ hybridization and Y ring chromosome.
    Hum Genet. 1988 Sep;80(1):95-96.
  33. Cole H, Huang B, Salbert BA, Brown J, Howard-Peebles PN, Black SH, Dorfmann A, Febles OR, Stevens CA, Jackson-Cook C.
    Mental retardation and Ullrich-Turner syndrome in cases with 45,X/46X,+mar: additional support for the loss of the X-inactivation center hypothesis.
    Am J Med Genet. 1994 Aug 15;52(2):136-145.
  34. Cole H, Stevens C, Brown J, Jackson-Cook.
    The identification of marker chromosomes using cytogenetic and  molecular techniques.
    Am J Hum Genet. 1990; 47: A28.
  35. Guttenbach M, Muller U, Schmid M.
    Cytogenetic and molecular analysis of a Yq isochromosome.
    Hum Genet. 1990 Dec;86(2):147-150.
  36. Koch J, Kolvraa S, Hobolt N, Petersen GB, Willard HF, Waye JS, Gregersen N, Bolund L.
    A case of 46,XX,r(X) (p1q1) diagnosed by in situ hybridization.
    Clin Genet. 1990 Mar;37(3):216-220.
  37. Pohlschmidt M, Rappold G, Krause M, Ahlert D, Hosenfeld D, Weissenbach J, Gal A.
    Ring Y chromosome: molecular characterization by DNA probes.
    Cytogenet Cell Genet. 1991;56(2):65-68.
  38. Bajalica S, Bui TH, Koch J, Brondum-Nielsen K.
    Prenatal investigation of a 45,X/46,X,r(?) karyotype in amniocytes using fluorescence in situ hybridization with an X-centromeric probe.
    Prenat Diagn. 1992 Jan;12(1):61-64.
  39. Bernstein R, Steinhaus KA, Cain MJ.
    Prenatal application of fluorescent in situ hybridization (FISH) for identification of a mosaic Y-chromosome marker, idic(Yp).
    Prenat Diagn. 1992 Sep;12(9):709-716.
  40. Hou JW, Lee ML, Wang TR.
    Identification of sex chromosomal abnormalities by fluorescence in situ hybridization.
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1992 Sep-Oct;33(5):332-340.
  41. Lindgren V, Chen CP, Bryke CR, Lichter P, Page DC, Yang-Feng TL.
    Cytogenetic and molecular characterization of marker chromosomes in patients with mosaic 45,X karyotypes.
    Hum Genet. 1992 Feb;88(4):393-398.
  42. Qu J, Dallaire L, Fetni R, Richer CL.
    Prenatal identification of a 45,X/46,Xder(Y) mosaicism and confirmation by high resolution cytogenetics and fluorescence in situ hybridization.
    Prenat Diagn. 1992 Nov;12(11):909-917.
  43. Tharapel SA, Wilroy RS, Keath AM, Rivas ML, Tharapel AT.
    Identification of the origin of ring/marker chromosomes in patients with Ullrich-Turner syndrome using X and Y specific alpha satellite DNA probes.
    Am J Med Genet. 1992 Mar 1;42(5):720-723.
  44. Dennis NR, Collins AL, Crolla JA, Cockwell AE, Fisher AM, Jacobs PA.
    Three patients with ring (X) chromosomes and a severe phenotype.
    J Med Genet. 1993 Jun;30(6):482-486.
  45. Rajangam S, Lincoln S, Hegde S, Jayashree, Manjunath NA, Thomas IM.
    FISH techniques in a Turner mosaic with ring X chromosome.
    Indian Pediatr. 1993 Dec;30(12):1451-1454.
  46. Zenger-Hain JL, Wiktor A, Goldman J, Van Dyke DL, Weiss L.
    X-inactivation pattern in an Ullrich-Turner syndrome patient with a small ring X and normal intelligence.
    Am J Med Genet. 1993 Sep 15;47(4):490-493.
  47. Daniel A, Malafiej P, Preece K, Chia N, Nelson J, Smith M.
    Identification of marker chromosomes in thirteen patients using FISH probing.
    Am J Med Genet. 1994 Oct 15;53(1):8-18.
  48. Macera MJ, Sherman J, Shah HO, Blumberg DL, Buttice LS, Lin JH, Verma RS.
    Identification of a non-fluorescent isodicentric Y chromosome by molecular cytogenetic techniques.
    Clin Genet. 1994 Nov;46(5):364-367.
  49. Robson L, Jackson J, Cowell C, Sillence D, Smith A.
    Novel karyotype in the Ullrich-Turner syndrome--45,X/46,X,r(X)/46,X, dic(X)--investigated with fluorescence in situ hybridization.
    Am J Med Genet. 1994 Apr 15;50(3):251-254.
  50. Slim R, Soulie J, Hotmar J, Lecolier B, Bercau G, Bernheim A.
    Prenatal identification of an isochromosome for the short arm of the Y i(Yp), by cytogenetic and molecular analyses.
    Prenat Diagn. 1994 Jan;14(1):23-28.
  51. Amiel A, Fejgin M, Appelman Z, Shapiro I, Gaber E, Bachar A, Zamir R, Kedar I, Golbus M.
    Fluorescent in-situ hybridization (FISH) as an aid to marker chromosome identification in prenatal diagnosis.
    Eur J Obstet Gynecol Reprod Biol. 1995 Mar;59(1):103-107.
  52. Gonzalez-del-Angel A, Blanco B, del Castillo V, Carnevale A.
    [Identification of sex chromosome markers using fluorescence in situ hybridization (FISH)]
    Rev Invest Clin. 1995 Mar-Apr;47(2):117-125.
  53. Grompe M, Rao N, Elder FF, Caskey CT, Greenberg F.
    45,X/46,X,+r(X) can have a distinct phenotype different from Ullrich-Turner syndrome.
    Am J Med Genet. 1992 Jan 1;42(1):39-43.
  54. Hou JW, Liu CH, Wang TR.
    Molecular cytogenetic studies of children with marker chromosomes.
    J Formos Med Assoc. 1994 Mar;93(3):205-209.
  55. Lin YH, Lin YM, Lin YH, Chuang L, Wu SY, Kuo PL.
    Ring (Y) in two azoospermic men.
    Am J Med Genet. 2004 Jul 15;128A(2):209-213.
  56. Henegariu O, Kernek S, Keating MA, Palmer CG, Heerema NA.
    PCR and FISH analysis of a ring Y chromosome.
    Am J Med Genet. 1997 Mar 17;69(2):171-176.
  57. Wegner RD, Scherer G, Pohlschmidt M, L'Allemand D, Gal A.
    Ring Y chromosome: cytogenetic and molecular characterization.
    Clin Genet. 1992 Aug;42(2):71-75.
  58. Sher ES, Addelston MB, Plotnick L, Urban MD, Berkovitz GD.
    Molecular investigation of two male subjects with short stature and a 45,X/46,X,ring(Y) karyotype.
    Horm Res. 1998;49(1):46-50.
  59. Robinson DO, Dalton P, Jacobs PA, Mosse K, Power MM, Skuse DH, Crolla JA.
    A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome.
    J Med Genet. 1999 Apr;36(4):279-284.
  60. Tzancheva M, Kaneva R, Kumanov P, Williams G, Tyler-Smith C.
    Two male patients with ring Y: definition of an interval in Yq contributing to Turner syndrome.
    J Med Genet. 1999 Jul;36(7):549-553.
  61. Dvorak CT, Techakittiroj C, Andersson HC, Pridjian G, Li MM.
    Counseling the families of two patients with atypical phenotypes following the prenatal diagnosis of Turner syndrome.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 265 (Abstractnummer 1403).
  62. Thomas IT, Frias JL, Cantu ES, Lafer CZ, Flannery DB, Graham JG Jr.
    Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism.
    Am J Hum Genet. 1989 Aug;45(2):193-205
  63. Wilson PL, Palmer SE, Blackett PR, Lee JY, Overcash H, Li S.
    Non-mosaic isochromosome Yp in a male with hypogonadism and mild cognitive disability.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 137 (Abstractnumber 656).
  64. Dawson AJ, Wickstrom DE, Riordan D, Cardwell S, Casey R, Baldry S, Brown C.
    A unique patient with an Ullrich-Turner syndrome variant and mosaicism for a tiny r(X) and a partial proximal duplication 1q.
    Am J Med Genet. 2004;124A:303-306.
  65. Müller U, Donlon T, Schmid M, Fitch N, Richer CL, Lalande M, Latt SA.
    Deletion mapping of the testis determining locus with DNA probes in 46,XX males and in 46,XY and 46,X,dic(Y) females.
    Nucleic Acids Res. 1986 Aug 26;14(16):6489-6505.
  66. Leppig KA, Sybert VP, Ross JL, Cunniff C, Trejo T, Raskind WH, Disteche CM.
    Phenotype and X inactivation in 45,X/46,X,r(X) cases.
    Am J Med Genet A. 2004 Jul 30;128(3):276-284.
  67. Velagaleti GV, Tharapel SA, Martens PR, Tharapel AT.
    Rapid identification of marker chromosomes using primed in situ labeling (PRINS).
    Am J Med Genet. 1997 Aug 8;71(2):130-133.
  68. DesGroseilliers M, Beaulieu Bergeron M, Brochu P, Lemyre E, Lemieux N.
    Phenotypic variability in isodicentric Y patients: study of nine cases.
    Clin Genet. 2006 Aug;70(2):145-150.
  69. Siffroi JP, Dupuy O, Joye N, Le Bourhis C, Benzacken B, Portnoi M, Berkane N, Franco JC, Studer C, Carbonne B, Gonzales M, Bucourt M, Uzan S, Uzan M, Milliez J, Wolf JP, Taillemite J, Dadoune JP.
    in situ hybridization for the diagnosis of Turner mosaic fetuses with small ring X chromosomes.
    Fetal Diagn Ther. 2000 Jul-Aug;15(4):229-233.
  70. Kushnick T, Irons TG, Wiley JE, Gettig EA, Rao KW, Bowyer S.
    45X/46X,r(X) with syndactyly and severe mental retardation.
    Am J Med Genet. 1987 Nov;28(3):567-574.
  71. Speleman F, Van der Auwera B, Mangelschots K, Vercruyssen M, Raap T, Wiegant J, Craen M, Leroy J.
    Identification and characterization of normal length nonfluorescent Y chromosomes: cytogenetic analysis, southern hybridization and non-isotopic in situ hybridization.
    Hum Genet. 1990 Oct;85(6):569-575.
  72. Berkovitz G, Stamberg J, Plotnick LP, Lanes R.
    Turner syndrome patients with a ring X chromosome.
    Clin Genet. 1983 Jun;23(6):447-453.
  73. Udler Y, Kauschansky A, Yeshaya J, Freedman J, Barkai U, Tobar A, Okon E, Halpern GJ, Shohat M, Legum C.
    Phenotypic expression of tissue mosaicism in a 45,X/46,X,dicY(q11.2) female.
    Am J Med Genet. 2001 Sep 1;102(4):318-323.
  74. Alvarez-Nava F, Soto M, Martinez MC, Prieto M, Alvarez Z.
    FISH and PCR analyses in three patients with 45,X/46,X,idic(Y) karyotype: clinical and pathologic spectrum.
    Ann Genet. 2003 Oct-Dec;46(4):443-448.
  75. Tuck-Muller CM, Chen H, Martinez JE, Shen CC, Li S, Kusyk C, Batista DA, Bhatnagar YM, Dowling E, Wertelecki W.
    Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature.
    Hum Genet. 1995 Jul;96(1):119-129.
  76. Bühler EM, Frey R, Muller H, Joegelin M, Stalder GR.
    Fluorescence pattern of a dicentric Y.
    Humangenetik. 1971;12(2):170-172.
  77. Armendares S, Buentello L, Salamanca F, Cantu-Garza JM.
    A dicentric Y chromosome without evidence of sex chromosomal mosaicism, 46,XYqdic, in a patient with features of Turner's syndrome.
    J Med Genet. 1972 Mar;9(1):96-100.
  78. Frey RO, Bühler EM, Bühler UK, Stalder GR.
    [45,X/46,SYq dic-Sexchromosome mosaic]
    Humangenetik. 1975;27(2):81-90. German.
  79. Hayek A, Yunis E.
    Dicentric Y chromosome in mixed gonadal dysgenesis.
    J Med Genet. 1975 Jun;12(2):210-212.
  80. Buchanan PD, Wyandt HE, D'Ercole AJ, Rao KW, Hartsell ML.
    A mitotically unstable human dicentric Y chromosome in a male pseudohermaphrodite.
    Cytogenet Cell Genet. 1976;17(1):42-50.
  81. Kulikov RI, Mashkova MV, Verlinskaia DK, Bondarev GN.
    [Identification of several chromosome aberrations in man by the fluorescent method using quinacrine yprite]
    Tsitologiia. 1976 Feb;18(2):213-218. Russian.
  82. Tuncbilek E, Halicioglu C, Bobrow M, Ustay K.
    45,XO/46,XYg dic mosaicism in a patient with ambiguous genitalia.
    Clin Genet. 1976 Mar;9(3):365-370.
  83. Armandares S, Salamanca F, Cos J, Chavarria C.
    45,X/46,X,dic(Yq) mosaicism and mixed gonadal dysgenesis. Case report and review of the literature.
    Ann Genet. 1977 Dec;20(4):269-272.
  84. Giraud F, Mattei JF, Lucas C, Mattei MG.
    Four new cases of Dicentric Y chromosomes.
    Hum Genet. 1977 May 10;36(3):249-260.
  85. Roubin M, de Grouchy J, Chauveau P, Rappaport R, Pellerin D.
    [Dicentric Y chromosome in a male pseudohermaphrodite 45,X/46,X, dic (Y)/47, XYY]
    Ann Genet. 1977 Sep;20(3):185-189. French.
  86. Alexander DS, Soudek D, Laraya P.
    Unstable dicentric iso(Yq) chromosome in a pseudohermaphrodite.
    Am J Med Genet. 1978;1(3):265-269.
  87. King CR, Cook DM.
    Bilateral gonadoblastoma in a phenotypic female with 45,X/46,X, dicentric iso Y [45,X/46,X,idic(Yq)] mosaicism.
    Birth Defects Orig Artic Ser. 1978;14(6C):109-122.
  88. Hermier M, Philippe N, Francois R.
    [A 45 X/46 X dic (Yq) puberal male without genital ambiguity. Critical study of the peculiarities of his phenotype]
    Arch Fr Pediatr. 1979 Feb;36(2):162-172. French.
  89. Herva R, Saarinen I, Savikurki H, de la Chapelle A.
    Dicentric Y chromosome arising via tandem translocation.
    Am J Med Genet. 1980;7(2):115-122.
  90. Plauchu H, Magnin G, Laurent C, Combet A, Drapier E, Dumont M, Rochet Y, Robert JM.
    [Gonadic dysgenesis and dicentric chromosome Y. A report of two cases, one of which had a gonadoblastoma (author's transl)]
    J Gynecol Obstet Biol Reprod (Paris). 1981;10(8):839-844. French.
  91. Sloan MS, Rosenberg SM, Brown JA.
    Primary amenorrhea and virilization in a true hermaphrodite with a rare dicentric Y chromosome.
    Obstet Gynecol. 1984 Sep;64(3 Suppl):64S-67S.
  92. Kovaleva NV, Iakovlev AV.
    [Characteristics of the morphology and mitotic condensation of human Y chromosomes with structural rearrangements]
    Tsitologiia. 1986 Dec;28(12):1322-1328. Russian.
  93. Weckworth PF, Johnson HW, Pantzar JT, Coleman GU, Masterson JS, McGillivray B, Tze WJ.
    Dicentric Y chromosome and mixed dysgenesis.
    J Urol. 1988 Jan;139(1):91-94.
  94. Seifer DB, Meyers-Seifer CH, Lavy G, Genel M, DeCherney AH, Yang-Feng TL.
    Laparoscopic adnexectomy in a prepubertal Turner mosaic female with isodicentric Y.
    Hum Reprod. 1991 Apr;6(4):566-567.
  95. Savary JB, Vasseur F, Flactif M, Willatt L, Lefebvre J, Ferguson-Smith MA, Deminatti MM.
    Cytogenetic and molecular investigations of an abnormal Y chromosome: evidence for a pseudo-dicentric (Yq) isochromosome.
    Ann Genet. 1992;35(3):134-139.
  96. Fass B, Kaplan S, Lippe B, Sparkes RS.
    Inconsistent expression of both centromeres of a dicentric Y chromosome in a child with ambiguous external genitalia.
    J Med Genet. 1978 Jun;15(3):232-236.
  97. Morillo-Cucci G, German J.
    Abnormal Y chromosomes and monosomy 45,X: a concept derived from the study of three patients.
    Birth Defects Orig Artic Ser. 1971 May;7(6):210-214.
  98. Stevenson AC, Bedford J, Barberton GM.
    A patient with 45,X-46,XXq--46,XXq-dic karyotype.
    J Med Genet. 1971 Dec;8(4):513-516.
  99. de Almeida JC, Llerena JC Jr, Jung M, Martins RR, Gomes DM, Reis DF, Cunha AG.
    Combined cytogenetic techniques and non-fluorescent Y. Cytologic evidences of dic(Yp)(q11) in a previously interpreted 46,X,Yq-.
    Ann Genet. 1986;29(2):114-118.
  100. Drummond-Borg M, Pagon RA, Bradley CM, Nordlund J, Salk D.
    Nonfluorescent dicentric Y in males with hypospadias.
    J Pediatr. 1988 Sep;113(3):469-473.
  101. Kosztolanyi G.
    Giemsa-11 technique elucidating three structurally altered nonfluorescent Y chromosomes: r (Y), idic (Yp), dir tan dup (Yp).
    Ann Genet. 1988;31(4):235-240.
  102. Batstone PJ, Faed MJ, Jung RT, Gosden J.
    45,X/46,X dic (Y) mosaicism in a phenotypic male.
    Arch Dis Child. 1991 Feb;66(2):252-253.
  103. Blackman JA, Selzer SC, Patil S, Van Dyke DC.
    Autistic disorder associated with an iso-dicentric Y chromosome.
    Dev Med Child Neurol. 1991 Feb;33(2):162-166.
  104. Proto G, Bartolomei P, Mazzolini A, Grimaldi F, Torossi I, Bertolissi F.
    [Mixed gonadal dysgenesis (MGD). Description of a case]
    Minerva Endocrinol. 1991 Oct-Dec;16(4):203-206. Italian.
  105. Taniuchi I, Mizutani S, Namiki M, Okuyama A, Kodama M.
    Short arm dicentric Y chromosome in a sterile man: a case report.
    J Urol. 1991 Aug;146(2):415-416.
  106. Cooper C, Crolla JA, Laister C, Johnston DI, Cooke P.
    An investigation of ring and dicentric chromosomes found in three Turner's syndrome patients using DNA analysis and in situ hybridisation with X and Y chromosome specific probes.
    J Med Genet. 1991 Jan;28(1):6-9.
  107. De Arce MA, Costigan C, Gosden JR, Lawler M, Humphries P.
    Further evidence consistent with Yqh as an indicator of risk of gonadal blastoma in Y-bearing mosaic Turner syndrome.
    Clin Genet. 1992 Jan;41(1):28-32.
  108. Nanko S, Konishi T, Satoh S, Ikeda H.
    A case of schizophrenia with a dicentric Y chromosome.
    Jpn J Hum Genet. 1993 Jun;38(2):229-232.
  109. Takihara H, Tsukahara M, Baba Y, Naito K, Kajii T.
    Dicentric Y chromosome in azoospermic males.
    Br J Urol. 1993 May;71(5):596-599.
  110. Siebers JW, Vogel W, Hepp H, Bolze H, Dittrich A.
    Structural aberrations of the Y chromosome and the corresponding phenotype. Report of a case with the karotype 45,X-46,X,i(Yp).
    Humangenetik. 1973;19(1):57-66.
  111. Ataya KM, Dudin G, Mroueh A.
    Dicentric i(Yq) chromosome and azoospermia.
    Am J Med Genet. 1983 Mar;14(3):583-590.
  112. McIlree ME, Price WH, Brown WM, Tulloch WS, Newsam JE, Maclean N.
    Chromosome studies on testicular cells from 50 subfertile men.
    Lancet. 1966 Jul 9;2(7454):69-71.
  113. Chandley AC, Ambros P, McBeath S, Hargreave TB, Kilanowski F, Spowart G.
    Short arm dicentric Y chromosome with associated statural defects in a sterile man.
    Hum Genet. 1986 Aug;73(4):350-353.
  114. Johnston AW, Speed RM, Klopper A, Robinson JA.
    A patient with a dicentric Y chromosome.
    Clin Genet. 1974;6(4):326-231.
  115. de Chieri PR, Hirschhorn K.
    Dicentric Y-chromosome mosaicism in a girl with clitoral hypertrophy.
    Hum Genet. 1979 Nov 1;52(1):149-152.
  116. Daniel A, Lyons N, Casey JH, Gras L.
    Two dicentric Y isochromosomes, one without and the Yqh heterochromatic segment: review of the Y isochromosomes.
    Hum Genet. 1980;54(1):31-39.
  117. Starkman MN, Jaffe RB.
    Chromosome aberrations in XO-XY mosaic individuals and their fathers.
    Am J Obstet Gynecol. 1967 Dec 15;99(8):1056-1066.
  118. Malkova J, Michalova K, Chrz R, Kobilkova J, Motlik K, Starka L.
    Dicentric Yp chromosome in a patient with the gonadal dysgenesis and gonadoblastoma.
    Humangenetik. 1975;27(3):251-253.
  119. Kaluzewski B, Jokinen A, Hortling H, de la Chapelle A.
    A theory explaining the abnormality in 45,X/46,XY mosaicism with non-fluorescent Y chromosome. presentation of three cases.
    Ann Genet. 1978 Mar;21(1):5-11.
  120. Jacobs PA.
    Structural abnormalities of the sex chromosomes.
    Br Med Bull. 1969 Jan;25(1):94-98.
  121. Robinson JA, Buckton KE.
    Quinacrine fluorescence of variant and abnormal human Y chromosomes.
    Chromosoma. 1971;35(3):342-352.
  122. Ferguson-Smith MA, Boyd E, Ferguson-Smith ME, Pritchard JG, Yusuf AF, Gray B.
    Isochromosome for long arm of Y chromosome in patient with Turner's syndrome and sex chromosome mosaicism (45,X-46,XYqi).
    J Med Genet. 1969 Dec;6(4):422-425.
  123. Magnelli NC, Vianna-Morgante AM, Frota-Pessoa O, Taboada-Lopez MG.
    Turner's syndrome and 46,X,i(Yq) karyotype.
    J Med Genet. 1974 Dec;11(4):403-406.
  124. Lonberg NC, Erlendsson J, Nielsen J, Saldana-Garcia P, Philip J.
    Isochromosome Yq in a woman with atypical Turner's syndrome.
    Hum Genet. 1977 Aug 31;38(1):49-55.
  125. Boschetti R, Gilbertas A, Noel B, Quack B.
    [Male pseudohermaphroditism and mosaicism 45,X-46,XYdic-46,XXq-]
    Ann Genet. 1968 Mar;11(1):62-65. French.
  126. Ferrier PE, Ferrier SA, Bill AH Jr.
    A male pseudohermaphrodite with a dicentric Y chromosome. Autoradiographic study.
    Humangenetik. 1968;6(2):131-141.
  127. Jalbert P, Convert A, Mouriquand C, Malka J.
    [A case of dicentric Y in a male pseudohermaphrodite with complex gonosomal mosaicism]
    Ann Genet. 1969 Dec;12(4):253-258. French.
  128. Angell R, Giannelli F, Polani PE.
    Three dicentric Y chromosomes.
    Ann Hum Genet. 1970 Jul;34(1):39-50.
  129. Böök JA, Eilon B, Halbrecht I, Komlos L, Shabtay F.
    Isochromosome Y (46,X,i(Yq)) and female phenotype.
    Clin Genet. 1973;4(5):410-414.
  130. Cohen MM, MacGillivray MH, Capraro VJ, Aceto TA.
    Human dicentric Y chromosomes. Case report and review of the literature.
    J Med Genet. 1973 Mar;10(1):74-79.
  131. Disteche CM, Saal H, Friedman C, Sybert V, Thuline H.
    Quantitative analysis of sex-chromosome mosaicism with X-Y DNA probes.
    Am J Hum Genet. 1986 May;38(5):751-758.
  132. Fryns JP, Kleczkowska A, Lemmens P, Van den Berghe H.
    Unusual in vivo rearrangements of the Y-chromosome in two males.
    Clin Genet. 1987 Mar;31(3):132-136.
  133. Fujimoto A, Boelter WD, Sparkes RS, Lin MS, Battersby K.
    Monozygotic twins of discordant sex both with 45,X/46,X,idic(Y) mosaicism.
    Am J Med Genet. 1991 Nov 1;41(2):239-245.
  134. Magenis RE, Casanova M, Fellous M, Olson S, Sheehy R.
    Further cytologic evidence for Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe.
    Hum Genet. 1987 Mar;75(3):228-233.
  135. Micic M, Micic S, Babic M, Diklic V.
    Phenotype of two males with abnormal Y chromosomes.
    Clin Genet. 1990 May;37(5):321-326.
  136. Ponzio G, DeMarchi M, Carbonara A, Godano A, Massara F.
    Dicentric Y chromosome in a patient with gonadal dysgenesis and seminoma.
    Hum Genet. 1981;58(3):282-284.
  137. Schmid W, D'Apuzzo V.
    Centromere inactivation in a case of Turner variant with two dicentric iso-long arm Y chromosomes.
    Hum Genet. 1978 Mar 17;41(2):217-223.
  138. Stalvey JR, Erickson RP, Dasouki M, Glover T, Shokir M.
    Clarification of chromosomal abnormalities associated with sexual ambiguity by studies with Y-chromosomal DNA sequences.
    Cytogenet Cell Genet. 1988;47(3):140-143.
  139. Ying KL, Ives EJ, Stephenson OD.
    Gonadal dysgenesis with 45,X/46,X,dic(Yp) mosaicism.
    Clin Genet. 1977 Jun;11(6):402-408.
  140. Chandley AC, Edmond P.
    Meiotic studies on a subfertile patient with a ring Y chromosome.
    Cytogenetics. 1971;10(4):295-304.
  141. Ying KL, Ives EJ.
    Mitotic behavior of a human dicentric Y chromosome.
    Cytogenetics. 1971;10(3):208-218.
  142. Wisniewski LP, Hirschhorn K.
    Distamycin A-DAPI banding of nonfluorescent Y(Ynf) chromosomes in 45,X/46,XYnf mosaicism.
    Hum Genet. 1982;60(2):130-132.
  143. Hsu LY, Kim HJ, Paciuc S, Steinfeld L, Hirschhorn K.
    Non-fluorescent and non-heterochromatic Y chromosome in 45, X 46,XY mosaicism.
    Ann Genet. 1974 Mar;17(1):5-9.
  144. Gänshirt-Ahlert D, Pawlowitzki IH, Gal A.
    Three cases of 45,X/46,XYnf mosaicism. Molecular analysis revealed heterogeneity of the nonfluorescent Y chromosome.
    Hum Genet. 1987 Jun;76(2):153-156.
  145. Münke M, de Martinville B, Lieber E, Francke U.
    Minute chromosomes replacing the Y chromosome carry Y-specific sequences by restriction fragment analysis and in situ hybridization.
    Am J Med Genet. 1985 Oct;22(2):361-374.
  146. German J, Simpson JL, McLemore GA Jr.
    Abnormalities of human sex chromosomes. I. A ring Y without mosaicism.
    Ann Genet. 1973 Dec;16(4):225-231.
  147. Wilson MG, Stein RB, Towner JW.
    Ring Y chromosome without mosaicism.
    Birth Defects Orig Artic Ser. 1976;12(5):105-112.
  148. Gemmill RM, Pearce-Birge L, Bixenman H, Hecht BK, Allanson JE.
    Y chromosome--specific DNA sequences in Turner-syndrome mosaicism.
    Am J Hum Genet. 1987 Aug;41(2):157-167.
  149. Bofinger MK, Needham DF, Saldana LR, Sosnowski JP, Blough RI.
    45,X/46,X,r(Y) karyotype transmitted by father to son after intracytoplasmic sperm injection for oligospermia. A case report.
    J Reprod Med. 1999 Jul;44(7):645-648.
  150. Maeda T, Ohno M, Ishibashi A, Samejima M, Sasaki K.
    Ring Y chromosome: 45,X/46,Xr(Y) chromosome mosaicism in a phenotypically normal male with azoospermia.
    Hum Genet. 1976 Sep 10;34(1):99-102.
  151. Steinbach P, Fabry H, Scholz W.
    Unstable ring Y chromosome in an aspermic male.
    Hum Genet. 1979 Apr 5;47(3):227-231.
  152. Khudr G, Benirschke K.
    Y ring chromosome associated with gonadoblastoma in situ.
    Obstet Gynecol. 1973 Jun;41(6):897-901.
  153. Ruthner U, Golob E.
    45,X-45,X, ace(?Yp)plus-46,X,r(Y) in a phenotypically normal newborn male.
    Humangenetik. 1974 May 17;22(2):177-180.
  154. Tsuchiya K, Reijo R, Page DC, Disteche CM.
    Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome.
    Am J Hum Genet. 1995 Dec;57(6):1400-1407.
  155. Laszlo J, Gaal M, Bosze P.
    Nonmosaic 46,X,r(Y) karyotype with female phenotype.
    Hum Genet. 1977 Oct 14;38(3):351-356.
  156. Taillemite JL, van den Akker J, Portnoi MF, Le Porrier N, Marmor D, Bouillie J, Roux C.
    A case of ring Y chromosome.
    Hum Genet. 1978 May 16;42(1):89-91.
  157. Mendez JP, Ulloa-Aguirre A, Kofman-Alfaro S, Mutchinick O, Fernandez-del-Castillo C, Reyes E, Perez-Palacios G.
    Mixed gonadal dysgenesis: clinical, cytogenetic, endocrinological, and histopathological findings in 16 patients.
    Am J Med Genet. 1993 May 15;46(3):263-267.
  158. Haaf T, Schmid M.
    Y isochromosome associated with a mosaic karyotype and inactivation of the centromere.
    Hum Genet. 1990 Oct;85(5):486-490.
  159. Fechner PY, Smith KD, Jabs EW, Migeon CJ, Berkovitz GD.
    Partial gonadal dysgenesis in a patient with a marker Y chromosome.
    Am J Med Genet. 1992 Apr 1;42(6):807-812.
  160. Berkovitz GD, Fechner PY, Zacur HW, Rock JA, Snyder HM 3rd, Migeon CJ, Perlman EJ.
    Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation.
    Medicine (Baltimore). 1991 Nov;70(6):375-383.
  161. Ostrer H, Henderson AL, Stringer LC.
    Characterization of Y chromosomal deoxyribonucleic acid fragments and translocations by Southern blot analysis.
    J Pediatr. 1987 Nov;111(5):678-683.
  162. Diekmann L, Palm K, Pfeiffer RA, Trautmann U, Scholz W, Schroers E, Vogt P, Kohler M.
    Multiple minute marker chromosomes derived from Y identified by FISH in an intersexual infant.
    Hum Genet. 1992 Sep-Oct;90(1-2):181-183.
  163. Müller U, Donlon TA, Kunkel SM, Lalande M, Latt SA.
    Y-190, a DNA probe for the sensitive detection of Y-derived marker chromosomes and mosaicism.
    Hum Genet. 1987 Feb;75(2):109-113.
  164. Lukusa T, Fryns JP, van den Berghe H.
    Gonadoblastoma and Y-chromosome fluorescence.
    Clin Genet. 1986 Apr;29(4):311-316.
  165. Blanco J, Farreras A, Egozcue J, Vidal F.
    Meiotic behavior of the sex chromosomes in a 45,X/46,X,r(Y)/46,X,dic r(Y) patient whose semen was assessed by fluorescence in situ hybridization.
    Fertil Steril. 2003 Apr;79(4):913-918.
  166. Yoshida A, Nakahori Y, Kuroki Y, Motoyama M, Araki Y, Miura K, Shirai M.
    Dicentric Y chromosome in an azoospermic male.
    Mol Hum Reprod. 1997 Aug;3(8):709-712.
  167. Petrovic V, Nasioulas S, Chow CW, Voullaire L, Schmidt M, Dahl H.
    Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies.
    J Med Genet. 1992 Aug;29(8):542-546.
  168. Held KR, Kerber S, Kaminsky E, Singh S, Goetz P, Seemanova E, Goedde HW.
    Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?
    Hum Genet. 1992 Jan;88(3):288-294.
  169. Moreira-Filho CA, Otto PG, Frota-Pessoa O.
    H-Y gene expression in apparent absence of the long arm of the Y chromosome.
    Am J Med Genet. 1979;4(2):135-139.
  170. Rary JM, Cummings DK, Jones HW Jr, Rock JA.
    Assignment of the H-Y antigen gene to the short arm of chromosome Y.
    J Hered. 1979 Jan-Feb;70(1):78-80.
  171.  Latt SA, Davidson RL, Lin MS, Gerald PS.
    Lateral asymmetry in the fluorescence of human Y chromosomes stained with 33 258 Hoechst.
    Exp Cell Res. 1974 Aug;87(2):425-429.
  172. Curtis WR, White BJ, Lucky AW, Roche-Bender N, Knab DR, Johnsonbaugh RE.
    Gonadal dysgenesis with mosaicism and a nonfluorescent Y chromosome: report of two cases with correlation of clinical, pathologic, and cytogenetic findings.
    Am J Obstet Gynecol. 1980 Mar 1;136(5):639-645.
  173. Fryns JP, Pedersen JC, Goddeeris P, van den Berghe H.
    Non-fluorescent Y-chromosome in mixed gonadal dysgenesis with 45,X/46,XY mosaicism.
    Ann Genet. 1980;23(1):54-56.
  174. Interlandi JW, Russell MH, Kirchner F, Rabin D.
    Genetic and endocrine findings in a 31-year-old 45,X/46,Xdel(Y)(q12) male.
    J Clin Endocrinol Metab. 1981 Nov;53(5):1047-1055.
  175. Parcheta B, Skawinski W, Wisniewski L.
    [DNA content and the size of Y chromosome in a patient with mixed gonadal dysgenesis and 45,X/46,Xt(Y:Y) (pter leads to q12::q12 leads to q11) karyotype]
    Ginekol Pol. 1982 Dec;53(12):889-895. Polish.
  176. Bardoni B, Zuffardi O, Guioli S, Ballabio A, Simi P, Cavalli P, Grimoldi MG, Fraccaro M, Camerino G.
    A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis.
    Genomics. 1991 Oct;11(2):443-451.
  177. Bishop AM, Blank CE, Simpson K, Dewhurst CJ.
    An XO-X ring X chromosome mosaicism in an individual with normal secondary sexual development.
    J Med Genet. 1966 Jun;3(2):129-133.
  178. de Grouchy J, Turleau C, Doussau de Bazignan M, Maroteaux P, Thibaud D.
    Incontinentia pigmenti (IP) and r(X). Tentative mapping of the IP locus to the X juxtacentromeric region.
    Ann Genet. 1985;28(2):86-89.
  179. Nagel T, Camargo M, Tagatz G, Okagaki T, Cervenka J, Cahill L, Wachtel SS, King R, Twiggs LB.
    Gonadal tumors in patients with gonadal dysgenesis and sex chromosomal rings and fragments.
    Am J Obstet Gynecol. 1984 Sep 1;150(1):76-82.
  180. Picciano DJ, Berlin CM, Davenport SL, Jacobson CB.
    Human ring chromosomes: a report of five cases.
    Ann Genet. 1972 Dec;15(4):241-247.
  181. Le Bris MJ, Le Guern H, Plouhinec C, Audrezet MP, Parent P, Chabaud JJ, Morel F, De Braekeleer M, Douet-Guilbert N.
    Prenatal diagnosis of a mosaic 45,X/46,X,r(X)46,XX with a small ring of the X chromosome.
    Genet Couns. 2006;17(4):429-434.
  182. Alkhayyat H, Christesen HB, Steer J, Stewart H, Brusgaard K, Hussain K.
    Mosaic Turner syndrome and hyperinsulinaemic hypoglycaemia.
    J Pediatr Endocrinol Metab. 2006 Dec;19(12):1451-1457.
  183. Priest JH, Chen AT, Fernhoff PM, Reidy JA, Whitsett C.
    Prenatal diagnosis of a de novo non-fluorescent Y chromosome.
    J Med Genet. 1980 Aug;17(4):314-316.
  184. Yanagisawa S.
    Structural abnormalities of the Y chromosome and abnormal external genitals.
    Hum Genet. 1980 Feb;53(2):183-188.
  185. Wiktor A, Van Dyke DL.
    FISH analysis helps identify low-level mosaicism in Ullrich-Turner syndrome patients.
    Genet Med. 2004 May-Jun;6(3):132-135.
  186. Mouaffak F, Gallarda T, Baup N, Olie JP, Krebs MO.
    Gender identity disorders and bipolar disorder associated with the ring Y chromosome.
    Am J Psychiatry. 2007 Jul;164(7):1122-1123.
  187. Nazarenko SA, Timoshevsky VA, Sukhanova NN.
    High frequency of tissue-specific mosaicism in Turner syndrome patients.
    Clin Genet. 1999 Jul;56(1):59-65.
  188. Fonatschi C, Flatz SD, Freymann R.
    Non-fluorescent Y chromosome in a male infant with Turner's symptoms and XO/XY mosaicism.
    Clin Genet. 1977 Mar;11(3):235-240.
  189. Willis MJ, Bird LM, Dell'aquilla M, Jones MC.
    Natural history of prenatally diagnosed 46,X,isodicentric Y.
    Prenat Diagn. 2006 Feb;26(2):134-137.
  190. Morava E, Hermann R, Czako M, Soltesz G, Kosztolanyi G.
    Isodicentric Y chromosome in an Ullrich-Turner patient without virilization.
    Am J Med Genet. 2000 Mar 13;91(2):99-101.
  191. Huang B, Thangavelu M, Bhatt S, J Sandlin C, Wang S.
    Prenatal diagnosis of 45,X and 45,X mosaicism: the need for thorough cytogenetic and clinical evaluations.
    Prenat Diagn. 2002 Feb;22(2):105-110.
  192. Henegariu O, Pescovitz OH, Vance GH, Verbrugge J, Heerema NA.
    A case with mosaic di-, tetra-, and octacentric ring Y chromosomes.
    Am J Med Genet. 1997 Sep 5;71(4):426-429.
  193. Udler Y, Kauschansky A, Yeshaya J, Freedman J, Barkai U, Tobar A, Okon E, Halpern GJ, Shohat M, Legum C.
    Phenotypic expression of tissue mosaicism in a 45,X/46,X,dicY(q11.2) female.
    Am J Med Genet. 2001 Sep 1;102(4):318-323.
  194. Yorifuji T, Muroi J, Mamada M, Uematsu A, Kawai M, Momoi T, Kaji M, Yamanaka C, Nakahata T.
    Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material.
    J Med Genet. 2001 Nov;38(11):E41.
  195. Fernandez R, Marchal JA, Sanchez A, Pasaro E.
    A point mutation, R59G, within the HMG-SRY box in a female 45,X/46,X, psu dic(Y)(pter-->q11::q11-->pter).
    Hum Genet. 2002 Sep;111(3):242-326.
  196. Abulhasan SJ, Tayel SM, al-Awadi SA.
    Mosaic Turner syndrome: cytogenetics versus FISH.
    Ann Hum Genet. 1999 May;63(Pt 3):199-206.
  197. Bruyere H, Speevak MD, Winsor EJ, de Freminville B, Farrell SA, McGowan-Jordan J, McGillivray B, Chitayat D, McFadden D, Adouard V, Terespolsky D, Prieur F, Pantzar T, Hrynchak M.
    Isodicentric Yp: prenatal diagnosis and outcome in 12 cases.
    Prenat Diagn. 2006 Apr;26(4):324-329.
  198. Guedes AD, Bianco B, Lipay MV, Brunoni D, de Lourdes Chauffaille M, Verreschi IT.
    Determination of the sexual phenotype in a child with 45,X/46,X,Idic(Yp) mosaicism: importance of the relative proportion of the 45,X line in gonadal tissue.
    Am J Med Genet A. 2006 Sep 1;140(17):1871-1875.
  199. Gisselsson D, Kristoffersson U, Giwercman A.
    Ring Y chromosome in an azoospermic male with short stature: additional evidence for a distinct ring Y syndrome in non-mosaic patients?
    Clin Genet. 2003 Dec;64(6):519-521.
  200. Dundar M, Lowther G, Acar H, Kurtoglu S, Demiryilmaz F, Kucukaydin M.
    A case of ambiguous genitalia presenting with a 45,X/46,Xr(Y)(p11.2;q11.23)/47,X,idic(Y)(p11.2),idic(Y)(p11.2) karyotype.
    Ann Genet. 2001 Jan-Mar;44(1):5-8.
  201. Fryns JP.
    Y-chromosome mosaicism with ring Y-chromosome/idic(Y)(p11.2) and "normal" ovarian development.
    Ann Genet. 2001 Oct-Dec;44(4):169.
  202. Ferrao L, Lopes ML, Limbert C, Marques B, Boieiro F, Silva M, Marques R, Lavinha J, Mota A, Goncalves J.
    [Screening for Y chromosome sequences in patients with Turner syndrome]
    Acta Med Port. 2002 Mar-Apr;15(2):89-100. Portuguese.
  203. Fernandez R, Pasaro E.
    Molecular analysis of an idic(Y)(qter -->p11.32::p11.32-->qter) chromosome from a female patient with a complex karyotype.
    Genet Mol Res. 2006 Jun 30;5(2):399-406.
  204. Dominguez MG, Vasquez AI, Troyo R, Ortiz-Aranda M, Padilla JR, Hernandez-Zaragoza G, Rivas F, Rivera H.
    Centromeric association of a microchromosome Y in two male patients.
    Genet Couns. 2006;17(4):413-419.
  205. Cervantes A, Guevara-Yanez R, Lopez M, Monroy N, Aguinaga M, Valdez H, Sierra C, Canun S, Guizar J, Navarrete C, Zafra G, Salamanca F, Kofman-Alfaro S.
    PCR-PRINS-FISH analysis of structurally abnormal sex chromosomes in eight patients with Turner phenotype.
    Clin Genet. 2001 Nov;60(5):385-392.
  206. Codina-Pascual M, Oliver-Bonet M, Navarro J, Starke H, Liehr T, Gutierrez-Mateo C, Sanchez-Garcia JF, Arango O, Egozcue J, Benet J.
    FISH characterization of a dicentric Yq (p11.32) isochromosome in an azoospermic male.
    Am J Med Genet A. 2004 Jun 15;127(3):302-306.
  207. Carvalho FM, Wolfgramm EV, Degasperi I, Verbeno BM, Vianna BA, Chagas FF, Perroni AM, Paula F, Louro ID.
    Molecular cytogenetic analysis of a ring-Y infertile male patient.
    Genet Mol Res. 2007 Mar 9;6(1):59-66.
  208. Bouayed Abdelmoula N, Portnoi MF, Amouri A, Arladan A, Chakroun M, Saad A, Hchicha M, Turki H, Rebai T.
    Turner syndrome female with a small ring X chromosome lacking the XIST, an unexpectedly mild phenotype and an atypical association with alopecia universalis.
    Ann Genet. 2004 Jul-Sep;47(3):305-313.
  209. Bertini V, Canale D, Bicocchi MP, Simi P, Valetto A.
    Mosaic ring Y chromosome in two normal healthy men with azoospermia.
    Fertil Steril. 2005 Dec;84(6):1744.
  210. Arnedo N, Nogues C, Bosch M, Templado C.
    Mitotic and meiotic behaviour of a naturally transmitted ring Y chromosome: reproductive risk evaluation.
    Hum Reprod. 2005 Feb;20(2):462-468.
  211. Aktas D, Alikasifoglu M, Gonc N, Senocak ME, Tuncbilek E.
    Isodicentric Y (p11.32) chromosome in an infant with mixed gonadal dysgenesis.
    Eur J Med Genet. 2006 Mar-Apr;49(2):141-149.
  212. Reddy KS, Sulcova V, Ho CK, Conner ED, Khurana A.
    An infant with a mosaic 45,X/46,X,psu dic(Y) (pter-->q11.2::q11.2-->pter) karyotype and mixed gonadal dysgenesis studied for extent of mosaicism in the gonads.
    Am J Med Genet. 1996 Dec 30;66(4):441-444.
  213. Canto P, Galicia N, Soderlund D, Escudero I, Mendez JP.
    Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism.
    Eur J Obstet Gynecol Reprod Biol. 2004 Jul 15;115(1):55-58.
  214. Taylor MC, Gardner HA, Ezrin C.
    Isochromosome for the long arm of the Y in an infertile male.
    Hum Genet. 1978 Jan 19;40(2):227-230.
  215. Laszlo J, Gaal M, Bosze P.
    Nonmosaic 46,X,r(Y) karyotype with female phenotype.
    Hum Genet. 1977 Oct 14;38(3):351-356.
  216. Mendez HM, Breda DJ, Souto CA, Salzano FM.
    Genetic and cytogenetic studies in patients with intersexuality or infertility.
    J Genet Hum. 1982 Mar;30(1):5-16.
  217. Mendez H.
    Ring Y chromosome.
    Am J Med Genet. 1986 May;24(1):201-202.
  218. Johnson VP, McDonough PG, Cheung SW, Sun L.
    Sex chromosome marker: clinical significance and DNA characterization.
    Am J Med Genet. 1991 Apr 1;39(1):97-101.
  219. Hagemeijer A, Hoovers J, Hasper-Voogt I, Von Ruhe-Zurcher T, Bootsma D.
    Late-replicating ring X-chromosomes identified by R-banding after BrdU pulse. Three new examples of mosaicism 45, XO/46, Xr(X).
    Hum Genet. 1976 Sep 10;34(1):45-52.
  220. Gravholt CH, Fedder J, Naeraa RW, Muller J.
    Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study.
    J Clin Endocrinol Metab. 2000 Sep;85(9):3199-3202.
  221. Quilter CR, Nathwani N, Conway GS, Stanhope R, Ralph D, Bahadur G, Serhal P, Taylor K, Delhanty JD.
    A comparative study between infertile males and patients with Turner syndrome to determine the influence of sex chromosome mosaicism and the breakpoints of structurally abnormal Y chromosomes on phenotypic sex.
    J Med Genet. 2002 Dec;39(12):e80.
  222. Quilter CR, Taylor K, Conway GS, Nathwani N, Delhanty JD.
    Cytogenetic and molecular investigations of Y chromosome sequences and their role in Turner syndrome.
    Ann Hum Genet. 1998 Mar;62(Pt 2):99-106.
  223. Hanson L, Bryman I, Janson PO, Jakobsen AM, Hanson C.
    Fluorescence in situ hybridisation analysis and ovarian histology of women with Turner syndrome presenting with Y-chromosomal material: a correlation between oral epithelial cells, lymphocytes and ovarian tissue.
    Hereditas. 2002;137(1):1-6.
  224. Valetto A, Bertini V, Rapalini E, Baldinotti F, Di Martino D, Simi P.
    Molecular and cytogenetic characterization of a structural rearrangement of the Y chromosome in an azoospermic man.
    Fertil Steril. 2004 May;81(5):1388-1390.
  225. Yoshitsugu K, Meerabux JM, Asai K, Yoshikawa T.
    Fine mapping of an isodicentric Y chromosomal breakpoint from a schizophrenic patient.
    Am J Med Genet B Neuropsychiatr Genet. 2003 Jan 1;116(1):27-31.
  226. Tazuke SI, Milki AA.
    Endometrioma of uterine serosa in a woman with mosaic Turner's syndrome receiving hormone replacement therapy: case report.
    Hum Reprod. 2002 Nov;17(11):2977-2980.
  227. Hsieh YY, Lin WC, Chang CC, Tsai FJ, Yu MT, Tsai HD, Tsai CH.
    Turner syndrome with pseudodicentric Y chromosome mosaicism.
    J Assist Reprod Genet. 2002 Jun;19(6):302-303.
  228. Bagci G, Acar H, Tomruk H.
    Different chromosome Y abnormalities in Turner syndrome.
    Genet Couns. 2001;12(3):255-261.
  229. Giltay JC, Ausems MG, van Seumeren I, Zewald RA, Sinke RJ, Faas B, de Vroede M.
    Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic study.
    Eur J Pediatr. 2001 Mar;160(3):154-158.
  230. Kawabata G, Sato M, Okamoto Y, Mizuno Y, Akematsu T, Okada H.
    Laparoscopic removal of gonads in a Turner's syndrome mosaic female patient with isodicentric Y chromosome.
    Int J Urol. 2000 Nov;7(11):425-426.
  231. Chomczyk I, Panasiuk B, Wojda A, Hubert E, Midro AT.
    [Turner syndrome in a girl with marker chromosome in karyotype]
    Ginekol Pol. 1999 May;70(5):348-353. Polish.
  232. Godoy Assumpcao J, Hackel C, Marques-De-Faria AP, Palandi de Mello M.
    Molecular mapping of an idic(Yp) chromosome in an Ullrich-Turner patient.
    Am J Med Genet. 2000 Mar 13;91(2):95-98.
  233. Jenderny J, Schmidt W, Held KR.
    Presence of the AZF region in a female with an idic(Y)(q11).
    Clin Genet. 1998 Oct;54(4):341-344.
  234. Stuppia L, Calabrese G, Franchi PG, Mingarelli R, Morizio E, Sabatino G, Palka G.
    Molecular studies in three patients with isodicentric Y chromosome.
    Hum Genet. 1996 Dec;98(6):691-695.
  235. Bergendi E, Plochl E, Vlasak I, Rittinger O, Muss W.
    A Turner-like phenotype in a girl with an isodicentric fluorescent Y chromosome mosaicism.
    Klin Padiatr. 1997 May-Jun;209(3):133-136.
  236. Teraoka M, Narahara K, Yokoyama Y, Tsuji K, Kikkawa K, Ito S, Koyama K, Seino Y.
    45,X/46,X,idic(Yq) mosaicism: clinical, cytogenetic, and molecular studies in four individuals.
    Am J Med Genet. 1998 Aug 6;78(5):424-428.
  237. Kelly TE, Franko JB, Rogol A, Golden WL.
    Discordant phenotypes and 45,X/46,X,idic(Y).
    J Med Genet. 1998 Oct;35(10):862-864.
  238. Sugarman ID, Crolla JA, Malone PS.
    Mixed gonadal dysgenesis and cell line differentiation. Case presentation and literature review.
    Clin Genet. 1994 Oct;46(4):313-315.
  239. Jakubowski L, Jeziorowska A, Constantinou M, Kaluzewski B.
    Molecular analysis of Y chromosome long arm structural instability in patients with gonadal dysfunction.
    Clin Genet. 2000 Apr;57(4):291-295.
  240. Roland B, Cox DM, Rudd NL.
    Sex chromosome mosaicism not detected at amniocentesis.
    Prenat Diagn. 1990 May;10(5):333-336.
  241. Wang BB, Yu LC, Peng W, Falk RE, Williams J 3rd.
    Prenatal identification of i(Yp) by molecular cytogenetic analysis.
    Prenat Diagn. 1995 Dec;15(12):1115-1119.
  242. Hernando C, Carrera M, Ribas I, Parear N, Baraibar R, Egocue J, Fuster C.
    Prenatal and postnatal characterization of Y chromosome structural anomalies by molecular cytogenetic analysis.
    Prenat Diagn. 2002 Sep;22(9):802-805.
  243. Kohn B, Kleyman SM, Conte RA, Macera MJ, Glassberg K, Verma RS.
    Characterization of an isodicentric Y-chromosome for the long arm in a newborn with mixed gonadal dysgenesis.
    Ann Genet. 1997;40(1):10-13.
  244. Marrocco G, Poscente M, Majore S, De Bernardo C, Rinaldi R, Del Porto G, Storniello G, Grammatico P.
    Clinical management and molecular cytogenetic characterization in a 45,X/46,X,idic(Yp) patient with severe hypospadia.
    J Pediatr Surg. 2003 Aug;38(8):1258-1262.
  245. Neas KR, Yip MY, James C, Kirk EP.
    Patient with a non-mosaic isodicentric Yp and mild developmental delay.
    Am J Med Genet A. 2005 Aug 30;137(2):223-224.
  246. Camurri L, Novelli G, Gennarelli M, Cantarelli M, Dallapicolla B.
    Yq deletions and AZF locus: molecular analysis in two fetuses with non familial homogeneous Yq rearrangements.
    Genet Couns. 1993;4(3):223-226.
  247. In't Veld PA, van Opstal D, Van den Berg C, Van Ooijen M, Brandenburg H, Pijpers L, Jahoda MG, Stijnen TH, Los FJ.
    Increased incidence of cytogenetic abnormalities in chorionic villus samples from pregnancies established by in vitro fertilization and embryo transfer (IVF-ET).
    Prenat Diagn. 1995 Oct;15(10):975-980.
  248. Polani PE, Alberman E, Alexander BJ, Benson PF, Berry AC, Blunt S, Daker MG, Fensom AH, Garrett DM, McGuire VM, Roberts JA, Seller MJ, Singer JD.
    Sixteen years' experience of counselling, diagnosis, and prenatal detection in one genetic centre: progress, results, and problems.
    J Med Genet. 1979 Jun;16(3):166-175.
  249. Smith YR, Stetten G, Charity L, Isacson C, Gearhart JP, Namnoum AB.
    Ambiguous genitalia in an elderly woman with a mosaic 45,X/46,X,dic(Y)(Q11.2) karyotype.
    Urology. 1996 Feb;47(2):259-262.
  250. Fernandez R, Pasaro E.
    Molecular analysis of an idic(Y)(qter -->p11.32::p11.32-->qter) chromosome from a female patient with a complex karyotype.
    Genet Mol Res. 2006 Jun 30;5(2):399-406.
  251. Petrusevska R, Beudt U, Schafer D, Schneider M, Brude E, Leitner C, Heller K, Arnemann J.
    Distribution of marker-Y chromosome containing cells in different tissues of a Turner mosaic patient with mixed gonadal dysgenesis.
    Clin Genet. 1996 May;49(5):261-266.
  252. Salo P, Kaariainen H, Petrovic V, Peltomaki P, Page DC, de la Chapelle A.
    Molecular mapping of the putative gonadoblastoma locus on the Y chromosome.
    Genes Chromosomes Cancer. 1995 Nov;14(3):210-214.
  253. Raff R, Schubert R, Schwanitz G, van der Ven K, Schweikert HU, Bruhl P.
    [Undescended testis and hypospadia in sex chromosomal aberrations]
    Klin Padiatr. 1998 Nov-Dec;210(6):400-405.
  254. Stankiewicz P, Helias-Rodzewicz Z, Jakubow-Durska K, Bocian E, Obersztyn E, Rappold GA, Mazurczak T.
    Cytogenetic and molecular characterization of two isodicentric Y chromosomes.
    Am J Med Genet. 2001 Jun 1;101(1):20-25.
  255. Stankiewicz P, Thiele H, Giannakudis I, Schlicker M, Baldermann C, Kruger A, Dorr S, Starke H, Hansmann I.
    Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression.
    Am J Med Genet. 2001 Aug 15;102(3):286-292.
  256. Gray BA, Bent-Williams A, Wolff DJ, Zori RT.
    A non-sex chromosome marker in a patient with an atypical Ullrich-Turner phenotype and mosaicism of 46,X,mar/46,XX.
    Clin Genet. 2001 Jul;60(1):73-76.
  257. Rudd MK, Mays RW, Schwartz S, Willard HF.
    Human artificial chromosomes with alpha satellite-based de novo centromeres show increased frequency of nondisjunction and anaphase lag.
    Mol Cell Biol. 2003 Nov;23(21):7689-7697.
  258. Xu J, Mak L, Jung J.
    Amniotic fluid with an inconclusive result by interphase FISH and 45,X by routine G-banding turned out to have 46,X,+ mar.ish der(X)(DXZ1+).
    Prenat Diagn. 2007 Dec 30;27(13):1258-1259.
  259. T Liehr, K Mrasek, S Hinreiner, D Reich, E Ewers, I Bartels, J Seidel, N Emmanuil, M Petersen, A Polityko, A Dufke, I Iourov, V Trifonov, J Vermeesch, A Weise.
    Small supernumerary marker chromosomes (sSMC) in patients with a karyotype 45,X/46,X,+mar - 17 new cases and a review of the literature.
    Sex Dev. 2007, 1(1):353-362.
  260. Wu HH, Lee TH, Chen CD, Yeh KT, Chen M.
    Delineation of an isodicentric Y chromosome in a mosaic 45,X/46,X,idic(Y)(qter-p11.3::p11.3-qter) fetus by SRY sequencing, G-banding, FISH, SKY and study of distribution in different tissues.
    J Formos Med Assoc. 2007 May;106(5):403-410.
  261. Özdemir M, Yavuz N, Durak B, Özön H, Cilingir O, Basaran N.
    Evaluation of abnormal karyotypes with physical features.
    Cytogenet Cell Genet 77:118 (Abstractno. P262)
  262. Karabela M, Kouka M, Abazis D, Benkhalifa M, Pangalos C.
    Cytogenetic, FISH and DNA analysis of a 45,X/46,X+mar case.
    Cytogenet Cell Genet 77:118 (Abstractno. P236)
  263. Lungeanu A, Arghir A, Arps S, Cardos G, Dumitriu N, Budisteanu M, Chirieac S, Rodewald A.
    Chromosome Y isodicentrics in two cases with ambiguous genitalia and features of Turner syndrome.
    Balk J Med Gen 2008; 11(2):51-58.
  264. Antonenko V, Shestopalova E, Shilova N, Zolotuhina T.
    A case of congenital spina bifida in a newborn male with pseudodicentric Y chromosome.
    Chr Res 2009, 17(Supl. 1):S34 (Abstractno: 1.8-P).
  265. Chernykh V, Kurilo L, Magomedova H, Kuzina N, Barkova O, Shilova N, Zolotukhina T, Ryzhkova O, Polyakov A.
    Cytogenetic and molecular analysis in five patients with dicentric Y chromosome and two males with Yp isochromosome.
    Chr Res 2009, 17(Supl. 1):S47-48 (Abstractno: 1.37-P)
  266. Risheg H, Chung W, Gadi I, Pasion R, Schwartz S, Tepperberg J, Papenhausen P.
    Two Mosaic Ring Cases with Evidence of Structural Evolution Determined by SNP Microarray.
    ASHG 2009; abstract only online, information from poster.
  267. Wen J, Liang D, Liao X, Xue J, Tang G, Xia Y, Long Z, Dai H, Wu L.
    [Identification of the small supernumerary marker chromosomes in two patients with Turner syndrome.]
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Dec;26(6):659-663. Chinese.
  268. Sheth F, Ewers E, Kosyakova N, Weise A, Sheth J, Desai M, Andrieux J, Vermeesch J, Hamid AB, Ziegler M, Liehr T.
    A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report.
    Mol Cytogenet. 2009 Nov 12;2:22.
  269. Ye ZC, Cai JG, Zhu XY, Zhao R, He XY, Zhong Y, Liu KX, Zhu YM.
    [Analysis of the small supernumerary marker chromosome in Turner syndrome with 45, X/46, X, + mar karyotype]
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Aug;26(4):461-464.
  270. Turner C, Dennis NR, Skuse DH, Jacobs PA.
    Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype.
    Hum Genet. 2000 Jan;106(1):93-100.
  271. Yorifuji T, Muroi J, Kawai M, Uematsu A, Sasaki H, Momoi T, Kaji M, Yamanaka C, Furusho K.
    Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes.
    J Med Genet. 1998 Jul;35(7):539-544.
  272. Migeon BR, Jeppesen P, Torchia BS, Fu S, Dunn MA, Axelman J, Schmeckpeper BJ, Fantes J, Zori RT, Driscoll DJ.
    Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis.
    Am J Hum Genet. 1996 Jan;58(1):161-170.
  273. Plaiasu V, Ochiana D, Motei G, Costin A, Neagu E, Iancu B.
    Phenotype-genotype correlation in a Tatar ethnic child with Kabuki-like features.
    Europ J Hum Genet 2010, Vol 18 Suppl 1: p118 (Abstractnr. P03.069).
  274. Neill NJ, Torchia BS, Bejjani BA, Shaffer LG, Ballif BC.
    Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH.
    Mol Cytogenet. 2010 Jun 29;3:11.
  275. Manolakos E, Kefalas K, Neroutsou R, Lagou M, Kosyakova N, Ewers E, Ziegler M, Weise A, Tsoplou P, Rapti S-M, Papoulidis I, Anastasakis E, Garas A, Sotiriou S, Eleftheriades M, Peitsidis P, Μalathrakis D, Thomaidis L, Kitsos G, Orru S, Liehr T, Petersen MB, Kitsiou-Tzeli S.
    Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization.
    Mol Med Rep 2010, 3:1015-1022.
  276. Chen X, Raca G, Laffin J, Babaian KN, Williams DH.
    Chromosomal abnormalities in 2 cases of testicular failure.
    J Androl. 2011 May-Jun;32(3):226-231.
  277. Sheth FJ, Andrieux J, Ewers E, Kosyakova N, Weise A, Sheth H, Romana SP, Lelorc'h M, Delobel B, Theisen O, Liehr T, Nampoothiri S, Sheth J.
    Characterization of sSMC by FISH and molecular techniques.
    Eur J Med Genet. 2011 May-Jun;54(3):247-255.
  278. Begovic D, Begovic D, Letica L, Tonkovic Djurisevic I, Crkvenac Gornik K, Lasan Trcic R, Salamon M, Tonkovic Djurisevic I
    Case report: A male with two idic(Y) chromosomes
    Europ J Hum Genet 2011, Vol 19 (Suppl. 2) pp 143-144 (Abstractnr. P03.058)
  279. Capovia P, Godava M, Hyjanek J, Hajduch M, Santavy J.
    Potocki-Lupski syndrome and Turner syndrome in two patients with mosaicism for a marker chromosomes
    Chromosome Res 2011, Vol 19 (Suppl. 1), p S37 (Abstractnr. 1.P02 - information from poster)
  280. Constantinou M, Bednarek M, Zajac E, Plowas I, Budzynska E, Zajaczek S, Piotrowski K, Kałużewski B
    The usefulness of the aCGH method in determining genotype-phenotype correlations in patients with chromosomal aberrations
    Chromosome Res 2011, Vol 19 (Suppl. 1), pp S64-65 (Abstractnr. 1.P51)
  281. Abdelhedi F, Baverel F, Marszalek A, Auvinet P, Coustier A, Lebbar A, Dupont J-M.
    A very unstable isodicentric chromosome Y detected by cytogenetic analysis in a patient with Turner syndrome
    Chromosome Res 2011, Vol 19 (Suppl. 1), pp S44-45 (Abstractnr. 1.P44)
  282. Jenčíková N, Peková H, Horáček J.
    Prenatal and postnatal cases with isodicentric Y chromosome.
    Chromosome Res 2011, Vol 19 (Suppl. 1), pp S60-61 (Abstractnr. 1.P19)
  283. Gulec EY, Candan S, Kuskucu A, Ozgen IT, Unuvar T, Adal E
    Isochromosomes of X and Y in three girls with delayed puberty
    Chromosome Res 2011, Vol 19 (Suppl. 1), pp S112-113 (Abstractnr. 1.P136)
  284. Sallai A, Sólyom J, Dobos M, Szabó J, Halász Z, Ságodi L, Niederland T, Kozári A, Bertalan R, Ugocsai P, Fekete G.
    Y-chromosome markers in Turner syndrome: Screening of 130 patients.
    J Endocrinol Invest. 2010 Apr;33(4):222-227.
  285. Djordjević VA, Jovanović JV, Pavković-Lučić SB, Drakulić DD, Djurović MM, Gotić MD.
    Cytogenetic findings in Serbian patients with Turner's syndrome stigmata.
    Genet Mol Res. 2010 Nov 9;9(4):2213-2221.
  286. Yilmaz Z, Yuksel B, Ozer O, Sahin FI.
    Mosaic isodicentric Y chromosome in a patient with mix gonadal dysgenesis.
    Abstracts of the 12th International Congress of Human Genetics 2011, Montreal, Canada, Abstract 1261T.
  287. Yu C, Torchinsky M, Abdul-Rahman O, Morris R, Hines R.
    Sex chromosome rearrangement and mosaicism in four patients with short stature and ovarian failure.
    Abstracts of the 12th International Congress of Human Genetics 2011, Montreal, Canada, Abstract 1262T.
  288. Dutta UR, Pidugu VK, Goud V, Dalal AB.
    Mosaic Down syndrome with a marker: molecular cytogenetic characterization of the marker chromosome.
    Gene. 2012 Mar 10;495(2):199-204.
  289. W Al-Achkar, A Wafa, T Liehr, E Klein, F Moassass.
    Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype.
    Mol Med Report 2012, 6: 293-296.
  290. Hamid AB, Kreskowski K, Weise A, Kosayakova N, Mrasek K, Voigt M, Guilherme RS, Wagner R, Hardekopf D, Pekova S, Karamysheva T, Liehr T, Klein E.
    How to narrow down chromosomal breakpoints in small and large derivative chromosomes - a new probe set.
    J Appl Genet. 2012 Aug;53(3):259-269.
  291. Guilherme RS, Klein E, Venner C, Hamid AB, Bhatt S, Melaragno MI, Volleth M, Polityko A, Kulpanovich A, Kosyakova N, Liehr T.
    Human ring chromosomes and small supernumerary marker chromosomes-do they have telomeres?
    Chromosome Res. 2012 Oct;20(7):825-835.
  292. Tesner P, Zidovska J, Vlckova M, Vseticka J, Klimova A, Drabova J, Kocarek E.
    Four prenatally diagnosed supernumerary marker chromosomes - their molecular-cytogenetic analysis and clinical consequences.
    Chromosome Res 2013, 21:S154 (Abstractnr. 13.P36)
  293. Xu X, Wang P, Tang S, Li H, Zheng Z, Xie F, Lv J.
    [SNP-chip technology for identification of origins for prenatally detected marker chromosomes].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Aug;30(4):447-50.
  294. Daggag H, Srour W, El-Khateeb M, Ajlouni K.
    Analysis of Turner syndrome patients within the Jordanian population, with a focus on four patients with Y chromosome abnormalities.
    Sex Dev. 2013;7(6):295-302.
  295. Glas J, Schüler HM, Soellner L, Bender U, Vogt PH, Zerres K.
    Isodicentric Yq chromosome without AZF deletion in a patient with azoospermia and short stature.
    MedGen 2014, 26:167-168.
  296. Karim Zad Hagh J, Bartz U, Ritterbach J, Günscht M, Behrend C.
    male patient with a non-mosaic idic Yp, short stature and infertility with azoospermia.
    MedGen 2014, 26:168.
  297. Kalantari H, Asia S, Totonchi M, Vazirinasab H, Mansouri Z, Zarei Moradi S, Haratian K, Gourabi H, Mohseni Meybodi A.
    Delineating the association between isodicentric chromosome Y and infertility: a retrospective study.
    Fertil Steril. 2014 Apr;101(4):1091-1096.
  298. Mazzaschi RL, Taylor J, Robertson SP, Love DR, George AM.
    A Turner syndrome patient carrying a mosaic distal X chromosome marker.
    Case Rep Genet    . 2014;2014:597314.
  299. Pérez-Vera P, Ulloa-Avilés V, Lieberman-Hernández E, Durán McKinster C, Gómez Carmona S, Cruz-Alcívar R, Navarrete-Meneses MP, Reyes-León A, Del Castillo-Ruíz V, Salas-Labadía C.
    Pigmentary mosaicism with 45,X and an extra marker containing the Xp11.22-p11.23 region.
    Abstracts of the 64th annual meeting of the American Society of Human Genetics, 18.-22. 10. 2014, p664 (Abstractno. 3202T)
  300. Dong Y, Yu XW, Wang RX, Li LL, Jiang YT, Liu RZ.
    45,X/46,X,r(Y)/46,X,dic r(Y) karyotype in an azoospermic male: a case report.
    Cytogenet Genome Res. 2014;142(2):140-144.
  301. Ayed W, Amouri A, Hammami W, Kilani O, Turki Z, Harzallah F, Bouayed-Abdelmoula N, Chemkhi I, Zhioua F, Slama CB.
    Cytogenetic abnormalities in Tunisian women with premature ovarian failure.
    C R Biol    . 2014 Dec;337(12):691-694.
  302. Fernández R, Mallo M, Solé F, Cortés-Cortés J, López-Siguero JP, Pásaro E.
    Turner’s syndrome female with a small ring (X) and 15q13.3 microdeletion syndrome identified by high-density array.
    Chromosome Res 2015,23:390 (Abstractno. P19).
  303. L Caba, C Bujoran, M Gramescu, E Graur, R Popescu, CN Gorduza, C Cristea, L Gheorgiu, L Leustean, MC Ungureanu, A Gatu, D Branisteanu, V Mogos, EV Gorduza.
    Genotype-phenotype correlation in female gonadal, dysgenesis - experience of genetics department of "St. Spiridon" hospital, Iasi, Romania.
    Chromosome Res 2015, 23,Suppl 1: S63-S64 (Abstractno: 1.P59).
  304. V Plaiasu, DA Ochiana, G Motai, IA Anca.
    Marker chromosome analysis in two patients wit Turner syndrome variant resembling Kabuki phenotype. Chromosome Res 2015, 23,Suppl 1: S54 (Abstractno: 1.P41).
  305. G Kronberger, O Rittinger, A Jungwirth.
    45,X/46,X,idic(Y) in azoospermia: clinical, hormonal and molecular findings in an adult man of very short stature.
    Chromosome Res 2015, 23,Suppl 1: S34 (Abstractno: 1.P1).
  306. Tu X, Zeng J, Cong X, Zhang X, Yan A.
    [Cytogenetic and molecular genetic analysis of a case with mosaic marker chromosomes].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi    . 2016 Feb 10;33(1):76-80.
  307. Jang W, Chae H, Kim J, Son JO, Kim SC, Koo BK, Kim M, Kim Y, Park IY, Sung IK.
    Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization.
    Mol Cytogenet. 2016 Aug 8;9:61.
  308. Zheng J, Liu Z, Xia P, Lai Y, Wei Y, Liu Y, Chen J, Qin L, Xie L, Wang H.
    [Clinical manifestation and cytogenetic analysis of 607 patients with Turner syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):61-64.
  309. Wang H, Wang T, Yang N, He Y, Chen L, Hong L, Shao X, Li H, Zhu H, Li H.
    The clinical analysis of small supernumerary marker chromosomes in 17 children with mos 45,X/46,X,+mar karyotype.
    Oncol Lett. 2017 Jun;13(6):4385-4389.
  310. Telepova AS, Romanenko SA, Lemskaya NA, Maksimova YV, Shorina AR, Yudkin DV.
    X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report.
    Mol Cytogenet. 2017 Nov 17;10:43.
  311. Liu N, Tong T, Chen Y, Chen Y, Cai C.
    [Origin and morphological features of small supernumerary marker chromosomes in Turner syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi    . 2018 Feb 10;35(1):43-46. Chinese.
  312. Al-Rikabi ABH, Pekova S, Fan X, Jančušková T, Liehr T.
    Small supernumerary marker chromosome may provide information on dosage-insensitive pericentric regions in human.
    Curr Genomics 2018; 19:192-199.
  313. Tesner P, Vlckova M, Drabova J, Vseticka J, Klimova A, Lastuvkova J, Zidovska J, Kremlikova Pourova R, Hancarova M, Sedlacek Z, Kocarek E.
    Molecular cytogenetic diagnostics of marker chromosomes: Analysis in four prenatal cases and long-term clinical evaluation of carriers.
    Cytogenet Genome Res    . 2018;154(4):187-195.
  314. Liu Y, Guo L, Chen H, Lu J, Hu J, Li X, Li X, Wang T, Li F, Yin A.
    Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes.
    Mol Cytogenet    . 2019 Jan 9;12:1. 
  315. Liehr T.
    Chromothripsis detectable in small supernumerary marker chromosomes (sSMC) using fluorescence in situ hybridization (FISH).
    Methods Mol Biol. 2018;1769:79-84.
  316. Xue H, Huang H, Wang Y, An G, Zhang M, Xu L, Lin Y.
    Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis.
    Mol Cytogenet    . 2019 Mar 11;12:13.
  317. Zhang J, Li L, Li Q, Cai Z, Wang B, Wang J, Li H.
    Mosaic ring-like small supernumerary marker chromosome and gene mutation in a male with intermittent azoospermia: A rare case report.
    Am J Mens Health. 2020 Mar-Apr;14(2):1557988320916402.
  318. Zhou L, Zheng Z, Wu L, Xu C, Wu H, Xu X, Tang S.
    Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array.
    Mol Cytogenet 2020, 13 (1):19.
  319. Li T, Sang H, Chu G, Zhang Y, Qi M, Liu X, Cui W, Zhao Y.
    Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes.
    Mol Cytogenet 2020;13:30.
  320. Kim DS, Park SH, Shim SH, Kim DK, Lyu SW, Kim JW, Lee WS, Song SH.
    Characterization and association of marker chromosomes with male infertility.
    J  Mens Health Vol 16(3):e11-e18.
  321. Tan YQ, Cheng DH, DI YF, Li LY, Lu GX.
    [Identification and characterization of marker chromosome in Turner syndrome].
    Zhonghua Fu Chan Ke Za Zhi. 2007 Oct;42(10):679-82. Chinese.
  322. Makroo RN, M Chowdhry, S Sharma.
    Identification and characterization of marker chromosome in Turner syndrome.
    Apollo Medicine 2013; 10:171-172.
  323. Xue H, Chen X, Lin M, Lin N, Huang H, Yu A, Xu L.
    Prenatal diagnosis and molecular cytogenetic identification of small supernumerary marker chromosomes: analysis of three prenatal cases using chromosome microarray analysis.
    Aging (Albany NY). 2020 Dec 9;13(2):2135-2148.
  324. Chen J, Guo M, Luo M, Deng S, Tian Q.
    Clinical characteristics and management of Turner patients with a small supernumerary marker chromosome.
    Gynecol Endocrinol. 2021 Aug;37(8):730-734.
  325. Kagan KO, Hoopmann M, Singer S, Schaeferhoff K, Dufke A, Mau-Holzmann UA.
    Discordance between ultrasound and cell free DNA screening for monosomy X.
    Arch Gynecol Obstet. 2016 Aug;294(2):219-24.
  326. Ilisson P,  Reimand T, Reimand T, Kuuse K, Auser A, Peltser M, Tammur P.
    Different genetic analyses in solving a complex prenatal case of 45,X/46,X,r(X)/46XX.
    ECA-Newsletter 2021, 48, p68. Poster     6.P10.
  327. Vorsanova SG, Kolotii AD, Kurinnaia OS, Kravets VS, Demidova IA, Soloviev IV, Yurov YB, Iourov IY.
    Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis.
    Mol Cytogenet. 2021 Feb 11;14(1):9.
  328. Li C, Luo W, Xiao T, Yang X, Ou M, Zhang L, Huang X, Zhu X.
    Case report: Genetic analysis of a small supernumerary marker chromosome in a unique case of mosaic Turner syndrome.
    Front Pediatr. 2022 Feb 18;10:799284.
  329. Aksoy E, Cogulu O, Pariltay E, Ozen S, Ata A, Karaca E, Darcan S.
    Association between clinical variations and copy number variations in cases with Turner syndrome.
    J Pediatr Endocrinol Metab. 2022 Aug 12;35(9):1161-1168.
  330. Takano T, Yamanouchi Y, Kawashima S, Date M, Hashira S, Kida M, Abe T, Nakahori Y, Nakagome Y.
    11q trisomy detected by fluorescence in situ hybridization.
    Clin Genet. 1993 Dec;44(6):324-8. 
  331. Yang Y, Hao W.
    Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis.
    Mol Cytogenet. 2023 Sep 4;16(1):23.
  332. Su L, Wu X, Liang B, Lin N, Xie X, Cai M, Zheng L, Wang M, Xu L.
    Fetal mosaicism, should conventional karyotype always be performed?
    J Obstet Gynaecol Res. 2023 Oct 16. doi: 10.1111/jog.15804. Epub ahead of print.
  333. González-Rodríguez MTA, Brukman-Jiménez SA, Cuero-Quezada I, Corona-Rivera JR, Corona-Rivera A, Serafín-Saucedo G, Aguirre-Salas LM, Bobadilla-Morales L.
    Identification of a small supernumerary marker chromosome in a Turner syndrome patient with karyotype mos 46,X,+mar/45,X.
    Genes (Basel). 2023 Jan 18;14(2):253.