ChromosOmics - Database

Icon by Leon Liehr                   

                                                     - REFERENCES for #22 -                                                              

      0. Liehr et al. unpublished data
  1. Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, Von Eggeling F, Liehr T.
    Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.
    Hum Genet. 2003 Dec;114(1):51-67.
  2. von Eggeling F, Langer S, Hoppe C, Liehr T, Weise A, Lederer G, Kotzot D.
    Presumed mutation in a microsatellite marker mimicking segmental uniparental disomy in a case of a small supernumerary marker chromosome detected at prenatal diagnosis.
    Clin Genet. 2003 Aug;64(2):168-171.
  3. Liehr T, Claussen U.
    Recent developments in human molecular cytogenetic techniques.
    Curr Mol Med. 2002 May;2(3):283-297.
  4. Liehr T, Nietzel A, Rocchi M, Heller A, Starke H, Claussen U, v Eggeling F.
    Centromere-specific  multicolor-FISH (cenM-FISH) followed by analysis for uniparental disomy - a useful tool in prenatal diagnosis.
    In: Early prenatal diagnosis, fetal cells and DNA in the mother - present state and perpectives.
    The Karolinum Press, Prag, 2002, pp 293-300, ISBN: 80-246-0397-7.
  5. Tung G, Covert SM, Malabed KL, Wohlferd MM, Beckerman KP, Goldberg JD, Cotter PD.
    Minute supernumerary marker chromosomes identified in two patients with a related, larger pseudodicentric chromosome.
    Am J Med Genet. 2001 Oct 15;103(3):193-197.
  6. Bartels I, Schlueter G, Liehr T, Von Eggeling F, Starke H, Glaubitz R, Burfeind P.
    Supernumerary small marker chromosome (SMC) and uniparental disomy 22 in a child with confined placental mosaicism of trisomy 22: Trisomy rescue due to marker chromosome formation.
    Cytogenet Genome Res., 2003;101(2):103-105.
  7. Liehr T, Pfeiffer RA, Trautmann U.
    Typical and partial cat eye syndrome: identification of the marker chromosome by FISH.
    Clin Genet. 1992 Aug;42(2):91-96.
  8. Pfeiffer RA, Heimann K, Heiming E, Schlack H, Maul H,
    Kolobom und Analatresie: Phänotyp einer Chromosomenaberration?
    Klin Monatsbl Augenheilk 1971, 159: 357-367.
  9. Johnson LD, Harris RC, Henderson AS.
    Ribosomal DNA sites in a metacentric chromosome fragment.
    Humangenetik. 1974;21(3):217-219.
  10. Schinzel A, Schmid W, Fraccaro M, Tiepolo L, Zuffardi O, Opitz JM, Lindsten J, Zetterqvist P, Enell H, Baccichetti C, Tenconi R, Pagon RA.
    The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.
    Hum Genet. 1981;57(2):148-158.
  11. Verma RS, Babu KA, Rosenfeld W, Jhaveri RC.
    Marker chromosome in cat eye syndrome.
    Clin Genet. 1985 May;27(5):526-528.
  12. Duncan AM, Rosenfeld W, Verma RS.
    Re-evaluation of the supernumerary chromosome in an individual with cat eye syndrome.
    Am J Med Genet. 1987 May;27(1):225-227.
  13. Lüleci G, Bagci G, Kivran M, Lüleci E, Bektas S, Basaran S.
    A hereditary bisatellite-dicentric supernumerary chromosome in a case of cat-eye syndrome.
    Hereditas. 1989;111(1):7-10.
  14. Reiss JA, Weleber RG, Brown MG, Bangs CD, Lovrien EW, Magenis RE.
    Tandem duplication of proximal 22q: a cause of cat-eye syndrome.
    Am J Med Genet. 1985 Jan;20(1):165-171.
  15. Ing PS, Lubinsky MS, Smith SD, Golden E, Sanger WG, Duncan AM.
    Cat-eye syndrome with different marker chromosomes in a mother and daughter.
    Am J Med Genet. 1987 Mar;26(3):621-628.
  16. Rosenfeld W, Verma RS, Jhaveri RC.
    Cat-eye syndrome with unusual marker chromosome probably not chromosome 22.
    Am J Med Genet. 1984 May;18(1):19-24.
  17. Weilong G, Aide Y, Hongbao F, Shumou L, Ju Y.
    Bisatellited dicentric chromosome: a report on a case with karyotype 47,XY, + psu dic(22)t(22;22)(22pter to cen to 22q11::22q11 to 22pter).
    Hum Genet. 1982;61(4):325-328.
  18. Magenis RE, Sheehy RR, Brown MG, McDermid HE, White BN, Zonana J, Weleber R.
    Parental origin of the extra chromosome in the cat eye syndrome: evidence from heteromorphism and in situ hybridization analysis.
    Am J Med Genet. 1988 Jan;29(1):9-19.
  19. Fryns JP, Eggermont E, Veresen H, Van den Berghe H.
    A newborn with the cat-eye syndrome.
    Humangenetik. 1972;15(3):242-248.
  20. Bühler EM, Mehes K, Müller H, Stalder GR.
    Cat-eye syndrome, a partial trisomy 22.
    Humangenetik. 1972;15(2):150-162.
  21. James RS, Temple IK, Dennis NR, Crolla JA.
    A search for uniparental disomy in carriers of supernumerary marker chromosomes.
    Eur J Hum Genet. 1995;3(1):21-26.
  22. Blennow E, Bui TH, Kristoffersson U, Vujic M, Anneren G, Holmberg E, Nordenskjold M.
    Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: prevalence and characterization by fluorescence in situ hybridization.
    Prenat Diagn. 1994 Nov;14(11):1019-1028.
  23. Blennow E, Nielsen KB, Telenius H, Carter NP, Kristoffersson U, Holmberg E, Gillberg C, Nordenskjold M.
    Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization.
    Am J Med Genet. 1995 Jan 2;55(1):85-94.
  24. 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.
  25. Hills LV, Nouri S, Slater HR
    Pericentromeric euchromatin is conserved in minute human supernumerary chromosomes. A study using cross-species colour segmenting (RxFISH).
    Chr Res. 2003 11:359-363.
  26. Verschraegen-Spae MR, van Roy N, de Perdigo A, de Paepe A, Speleman F.
    Molecular cytogenetic characterization of marker chromosomes found at prenatal diagnosis.
    Prenat Diagn. 1993 May;13(5):385-394.
  27. Langer S, Fauth C, Rocchi M, Murken J, Speicher MR.
    AcroM fluorescent in situ hybridization analyses of marker chromosomes.
    Hum Genet. 2001 Aug;109(2):152-158.
  28. Gravholt CH, Friedrich U.
    Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group of children.
    Am J Med Genet. 1995 Mar 13;56(1):106-111.
  29. Stetten G, Blakemore KJ, Courter AM, Coss CA, Jabs EW.
    Prenatal identification of small mosaic markers of different chromosomal origins.
    Prenat Diagn. 1992 Feb;12(2):83-91.
  30. McTaggart KE, Budarf ML, Driscoll DA, Emanuel BS, Ferreira P, McDermid HE.
    Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints.
    Cytogenet Cell Genet. 1998;81(3-4):222-228.
  31. Mears AJ, Duncan AM, Budarf ML, Emanuel BS, Sellinger B, Siegel-Bartelt J, Greenberg CR, McDermid HE.
    Molecular characterization of the marker chromosome associated with cat eye syndrome.
    Am J Hum Genet. 1994 Jul;55(1):134-142.
  32. Pierluigi M, Battaglia P, Perfumo C, Baroncini A, Bricarelli FD.
    Combined use of cytogenetic analysis and FISH for the identification of two antenatal de novo markers as Robertsonian translocations involving the p arms.
    Ann Genet. 1997;40(2):99-103.
  33. Shaikh TH, Budarf ML, Celle L, Zackai EH, Emanuel BS.
    Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families.
    Am J Hum Genet. 1999 Dec;65(6):1595-1607.
  34. Viersbach R, Engels H, Gamerdinger U, Hansmann M.
    Delineation of supernumerary marker chromosomes in 38 patients.
    Am J Med Genet. 1998 Apr 1;76(4):351-358.
  35. Hastings RJ, Nisbet DL, Waters K, Spencer T, Chitty LS.
    Prenatal detection of extra structurally abnormal chromosomes (ESACs): new cases and a review of the literature.
    Prenat Diagn. 1999 May;19(5):436-445.
  36. Crolla JA, Howard P, Mitchell C, Long FL, Dennis NR.
    A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes.
    Am J Med Genet. 1997 Nov 12;72(4):440-447.
  37. 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.
  38. Urioste M, Visedo G, Sanchis A, Sentis C, Villa A, Ludena P, Hortiguela JL, Martinez-Frias ML, Fernandez-Piqueras J.
    Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome.
    Am J Med Genet. 1994 Jan 1;49(1):77-82.
  39. Scott K, Delmege C, Stuart G, Tumpenny PT.
    A case of Catecholaminergic Polymorphic Ventricular Tachycardia with additional finding of two supernumerary structurally abnormal chromosomes derived from chromosome 22.
    J Med Genet 2003; 40(Suppl. 1):S32.
  40. Arab S, Chitayat D, Gardner HA, Winsor EJ.
    Mosaicism for a small marker chromosome resulting from a familial Robertsonian translocation (21;22).
    Clin Genet. 1999 Nov;56(5):362-366.
  41. Wolff DJ, Schwartz S.
    Characterization of Robertsonian translocations by using fluorescence in situ hybridization.
    Am J Hum Genet. 1992 Jan;50(1):174-181.
  42. Kirchhoff M, Rose H, Lundsteen C.
    High resolution comparative genomic hybridisation in clinical cytogenetics.
    J Med Genet. 2001 Nov;38(11):740-744.
  43. Lohmann L, Chelloug N, Rosales B, Guerin C, Lyonnet S, Jonveaux P, Simon-Bouy B.
    Dicentric marker derived from chromosome 22 associated with mild clinical signs: a case report.
    Prenat Diagn. 2000 Feb;20(2):156-158.
  44. Rogatto SR, Rainho CA, Zhang ZM, Figueiredo F, Barbieri-Neto J, Georgetto SM, Squire JA.
    Hemangioendothelioma of bone in a patient with a constitutional supernumerary marker.
    Cancer Genet Cytogenet. 1999 Apr;110(1):23-27.
  45. Wolff DJ, Schwartz S.
    Characterization of Robertsonian translocations by using fluorescence in situ hybridization.
    Am J Hum Genet. 1992 Jan;50(1):174-181.
  46. Callen DF, Eyre H, Yip MY, Freemantle J, Haan EA.
    Molecular cytogenetic and clinical studies of 42 patients with marker chromosomes.
    Am J Med Genet. 1992 Jul 1;43(4):709-715.
  47. Tuerlings JH, de France HF, Hamers A, Hordijk R, Van Hemel JO, Hansson K, Hoovers JM, Madan K, Van der Blij-Philipsen M, Gerssen-Schoorl KB, Kremer JA, Smeets DF.
    Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience.
    Eur J Hum Genet. 1998 May-Jun;6(3):194-200.
  48. Borgaonkar DS, McKusick VA, Farber PA.
    An inherited small extra chromosome: a mother with 46,XX,t(17;22)(pl;ql) and a son with 47,XY,+der(22)mat.
    J Med Genet. 1973 Dec;10(4):379-384.
  49. Balci S, Halicioglu C, Say B, Taysi K.
    Case report. The cat-eye syndrome with unusual skeletal malformations.
    Acta Paediatr Scand. 1974 Jul;63(4):623-626.
  50. Carmi R, Abeliovich D, Bar-Ziv J, Karplus M, Cohen MM.
    Malformation syndrome associated with small extra chromosome.
    Am J Med Genet. 1980;5(1):101-107.
  51. Darby CW, Hughes DT.
    Dermatoglyphics and chromosomes in cat-eye syndrome.
    Brit. Med. J. 262: 47-48, 1971.
  52. Ferrandez A, Schmid W.
    [Potter syndrome (kidney agenesis) with chromosome abnormalities in the patient and mosaicism in the father]
    Helv Paediatr Acta. 1971 Jun;26(2):210-214. German.
  53. Franklin RC, Parslow MI.
    The cat-eye syndrome. Review and two further cases occurring in female siblings with normal chromosomes.
    Acta Paediatr Scand. 1972 Sep;61(5):581-586.
  54. Gerald P S, Davis C, Say B, Wilkins J.
    Syndromal association of imperforate anus: the Cat Eye syndrome.
    Birth Defects Orig. Art. Ser. VIII(2): 79-84, 1972.
  55. Ginsberg J, Dignan P, Soukup S.
    Ocular abnormality associated with extra small autosome.
    Am J Ophthalmol. 1968 May;65(5):740-746.
  56. Giraud F, Mattei JF, Hartung M, Mattei MG.
    Petit chromosome submetacentrique surnumeraire et syndrome des yeux de chat.
    Ann Pediatr. (Paris) 1975, 22:449-452.
  57. Jensen PK, Hansen P.
    A bisatellited marker chromosome in an infant with the caudal regression anomalad.
    Clin Genet. 1981 Feb;19(2):126-129.
  58. Krmpotic E, Rosnick MR, Zollar LM.
    Genetic counseling. Secondary nondisjunction in partial trisomy 13.
    Obstet Gynecol. 1971 Mar;37(3):381-390.
  59. Loevy HT, Jayaram BN, Rosenthal IM, Pildes R.
    Partial trisomy 13 associated with cleft lip and cleft palate.
    Cleft Palate J. 1977 Jul;14(3):239-243.
  60. Mahboubi S, Templeton JM Jr.
    Association of Hirschsprung's disease and imperforate anus in a patient with "cat-eye" syndrome. A report of one case and review of the literature.
    Pediatr Radiol. 1984;14(6):441-442.
  61. Noel B, Quack B, Rethore MO.
    Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations.
    Clin Genet. 1976 Jun;9(6):593-602.
  62. Petit P, Godart S, Fryns JP.
    Silver staining of the supernumerary chromosome in the cat-eye syndrome.
    Ann Genet. 1980;23(2):114-116.
  63. Pierson M, Gilgenkrantz S, Saborio M.
    Syndrome dit de l'oeil de chat avec nanisme hypophysaire et developpement mental normal.
    Arch Franc Pediatr. 1975; 32: 835-848.
  64. Rosias PR, Sijstermans JM, Theunissen PM, Pulles-Heintzberger CF, De Die-Smulders CE, Engelen JJ, Van Der Meer SB.
    Phenotypic variability of the cat eye syndrome. Case report and review of the literature.
    Genet Couns. 2001;12(3):273-282.
  65. Schachenmann G, Schmid W, Fraccaro M, Mannani A, Tiepolo L, Perona GP, Sartori E.
    Chromosomes in coloboma and anal atresia.
    Lancet. 1965 Aug 7;19:290.
  66. Toomey KE, Mohandas T, Leisti J, Szalay G, Kaback MM.
    Further delineation of the supernumerary chromosome in the Cat-Eye syndrome.
    Clin Genet. 1977 Nov;12(5):275-284.
  67. Ward J, Sierra IA, D'Croz E.
    Cat eye syndrome associated with aganglionosis of the small and large intestine.
    J Med Genet. 1989 Oct;26(10):647-648.
  68. Weber FM, Dooley RR, Sparkes RS.
    Anal atresia, eye anomalies, and an additional small abnormal acrocentric chromosome (47,XX,mar+): report of a case.
    J Pediatr. 1970 Apr;76(4):594-597.
  69. Wenger SL, Surti U, Nwokoro NA, Steele MW.
    Cytogenetic characterization of cat eye syndrome marker chromosome.
    Ann Genet. 1994;37(1):33-36.
  70. Berends MJ, Tan-Sindhunata G, Leegte B, van Essen AJ.
    Phenotypic variability of Cat-Eye syndrome.
    Genet Couns. 2001;12(1):23-34.
  71. Masukawa H, Ozaki T, Nogimori T.
    Cat eye syndrome with hypogonadotropic hypogonadism.
    Intern Med. 1998 Oct;37(10):853-836.
  72. Hough CA, White BN, Holden JJ.
    Absence of lambda immunoglobulin sequences on the supernumerary chromosome of the "cat eye" syndrome.
    Am J Med Genet. 1995 Sep 11;58(3):277-281.
  73. McDermid HE, Duncan AM, Brasch KR, Holden JJ, Magenis E, Sheehy R, Burn J, Kardon N, Noel B, Schinzel A,  Teshima I, White BN.
    Characterization of the supernumerary chromosome in cat eye syndrome.
    Science. 1986 May 2;232(4750):646-648.
  74. Hoo JJ, Robertson A, Fowlow SB, Bowen P, Lin CC.
    Inverted duplication of 22pter->q11.21 in cat-eye syndrome.
    Am J Med Genet. 1986 Jul;24(3):543-545.
  75. Cullen P, Rodgers CS, Callen DF, Connolly VM, Eyre H, Fells P, Gordon H, Winter RM, Thakker RV.
    Association of familial Duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22.
    Am J Med Genet. 1993 Nov 1;47(6):925-930.
  76. Bulle F, Lespinasse J, Pawlak A, Vadot E, Sastre J, Noel B, Guellaen G.
    Identification of a cat eye syndrome using DNA sequence dosage analysis.
    Ann Genet. 1996;39(3):139-143.
  77. Nicolosi C, Girlanda P, Vita G, Messina C.
    Cat eye syndrome and dystonia.
    Mov Disord. 1996 Jan;11(1):110-111.
  78. Reeser SL, Donnenfeld AE, Miller RC, Sellinger BS, Emanuel BS, Driscoll DA.
    Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization.
    Prenat Diagn. 1994 Nov;14(11):1029-1034.
  79. Bellinghieri G, Triolo O, Stella NC, Gemelli M, Musolino R, Monardo P, Savica V.
    Renal function evaluation in an adult female with cat-eye syndrome.
    Am J Nephrol. 1994;14(1):76-79.
  80. Tupler R, Hoeller A, Pezzolo A, Maraschio P.
    Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome.
    Ann Genet. 1994;37(3):153-155.
  81. Bröndum-Nielsen K.
    Extra small marker chromosome associated with normal phenotype due to 3:1 disjunction of t(14;22) in a parent. Implications for the origin of marker chromosomes.
    Clin Genet. 1991 Sep;40(3):215-217
  82. Duncan AM, Hough CA, White BN, McDermid HE.
    Breakpoint localization of the marker chromosome associated with the cat eye syndrome.
    Am J Hum Genet. 1986 Jun;38(6):978-980.
  83. Thomas C, Cordier J, Gilgenkrantz S, Reny A, Raspiller A.
    [An unusual syndrome: colobomatous disorder of the eyeball, anal atresia, multiple congenital anomalies and presence of an extra chromosome]
    Ann Ocul (Paris). 1969 Oct;202(10):1021-1031. French.
  84. Noel B, Quack B.
    Petit metacentric surnumeraire chez un polmalforme.
    J Genet Hum 1970; 18:45-46. French.
  85. Cory CC, Jamison DL.
    The cat eye syndrome.
    Arch Ophthalmol. 1974 Sep;92(3):259-262.
  86. Kunze J, Tolksdorf M, Wiedemann HR.
    [Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)]
    Humangenetik. 1975;26(4):271-289.
  87. Zellweger H, Mikamo K, Abbo G:
    Two cases of non-mongoloid trisomy G.
    Ann Paediat 1962, 199:613-624.
  88. Taft PD, Dodge PR, Atkins L.
    Mental retardation and multiple congenital anomalies: assiciation with extra small metacentric chromosome.
    Am J Dis Child. 1965 Jun;109:554-557.
  89. Ishmael J, Laurence KM.
    A probable case of incomplete trisomy of a chromosome of the 13-15 group.
    J Med Genet. 1965 Jun;39:136-141.
  90. Curcio S.
    [Malformations of the vagina and rectum associated to chromosomic anomaly (47, XX, ?G+)]
    Arch Ostet Ginecol. 1967 Sep-Oct;72(5):533-539. Italian.
  91. Beyer P, Ruch JV, Rumpler Y, Girard J.
    [Case of a mentally retarded and polymalformed child whose karyotype shows the presence of a small mediocentric extra chromosome]
    Pediatrie. 1968 Jun;23(4):439-442. French.
  92. De Chieri R, Malfatti C, Stanchi F, Albores JM.
    Cat-eye syndrome: evaluation of the extra chromosome with banding techniques. Case report.
    J Genet Hum. 1974 Jun;22(2):101-107.
  93. Kurahashi H, Emanuel BS.
    Long AT-rich palindromes and the constitutional t(11;22) breakpoint.
    Hum Mol Genet. 2001 Nov 1;10(23):2605-2617.
  94. Lin AE, Bernar J, Chin AJ, Sparkes RS, Emanuel BS, Zackai EH.
    Congenital heart disease in supernumerary der(22),t(11;22) syndrome.
    Clin Genet. 1986 Apr;29(4):269-275.
  95. Iselius L, Lindsten J, Aurias A, Fraccaro M, Bastard C, Bottelli AM, Bui TH, Caufin D, Dalpra L, Delendi N, et al.
    The 11q;22q translocation: a collaborative study of 20 new cases and analysis of 110 families.
    Hum Genet. 1983;64(4):343-355.
  96. Funke B, Edelmann L, McCain N, Pandita RK, Ferreira J, Merscher S, Zohouri M, Cannizzaro L, Shanske A, Morrow BE.
    Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.
    Am J Hum Genet. 1999 Mar;64(3):747-758.
  97. Edelmann L, Spiteri E, Koren K, Pulijaal V, Bialer MG, Shanske A, Goldberg R, Morrow BE.
    AT-rich palindromes mediate the constitutional t(11;22) translocation.
    Am J Hum Genet. 2001 Jan;68(1):1-13.
  98. Edelmann L, Spiteri E, McCain N, Goldberg R, Pandita RK, Duong S, Fox J, Blumenthal D, Lalani SR, Shaffer LG, Morrow BE.
    A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation.
    Am J Hum Genet. 1999 Dec;65(6):1608-1616.
  99. Fung J, Munne S, Garcia J, Kim UJ, Weier HU.
    Molecular cloning of translocation breakpoints in a case of constitutional translocation t(11;22)(q23;q11) and preparation of probes for preimplantation genetic diagnosis.
    Reprod Fertil Dev. 1999;11(1):17-23.
  100. Tapia-Paez I, O'Brien KP, Kost-Alimova M, Sahlen S, Kedra D, Bruder CE, Andersson B, Roe BA, Hu P, Imreh S, Blennow E, Dumanski JP.
    Fine mapping of the constitutional translocation t(11;22)(q23;q11).
    Hum Genet. 2000 May;106(5):506-516.
  101. Lindblom A, Sandelin K, Iselius L, Dumanski J, White I, Nordenskjold M, Larsson C.
    Predisposition for breast cancer in carriers of constitutional translocation 11q;22q.
    Am J Hum Genet. 1994 May;54(5):871-876.
  102. Kurahashi H, Shaikh TH, Zackai EH, Celle L, Driscoll DA, Budarf ML, Emanuel BS.
    Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).
    Am J Hum Genet. 2000 Sep;67(3):763-768.
  103. Hou JW.
    Supernumerary chromosome marker der(22)t(11;22) resulting from a maternal balanced translocation.
    Chang Gung Med J. 2003 Jan;26(1):48-52.
  104. 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.
  105. Engelen JJ, Tuerlings JH, Albrechts JC, Schrander-Stumpel CT, Hamers AJ, De Die-Smulders CE.
    Prenatally detected marker chromosome identified as an i(22)(p10) using (micro)FISH.
    Genet Couns. 2000;11(1):13-17.
  106. Sasagawa I, Nakada T, Ishigooka M, Tomaru M, Sawamura T, Tateno T.
    Cryptorchidism and marker chromosomes: identification of marker chromosomes by fluorescence in situ hybridization.
    Urol Int. 1995;55(1):25-28.
  107. Sasagawa I, Nakada T, Ishigooka M, Sawamura T, Adachi Y, Hashimoto T.
    Chromosomal anomalies in cryptorchidism.
    Int Urol Nephrol. 1996;28(1):99-102.
  108. Simi P, Ceccarelli M, Barachini A, Floridia G, Zuffardi O.
    The unbalanced offspring of the male carriers of the 11q;22q translocation: nondisjunction at meiosis II in a balanced spermatocyte.
    Hum Genet. 1992 Feb;88(4):482-483.
  109. Tibiletti MG, Sala E, Colombo D, Arlati S, Varisco T, La Placa G.
    Chromosome 22 marker in a child with Duane syndrome and urogenital abnormalities.
    Ann Genet. 1996;39(3):168-172.
  110. Werding N, Holland H, Hueckel D, Froster UG, Hausler HJ, Kiess W.
    Partial trisomy 22 resulting from rearrangements between chromosomes 11/22 and 16/22: a report of two cases.
    Acta Paediatr. 2003 Jul;92(7):865-868.
  111. Dufke et al.
    Chromosomal mosaicism in familial reciprocal translocation carriers. necessity of karyotyping different tissues
    Am J Med Gen 2003; 121A; 292.
  112. Kurahashi H, Emanuel BS.
    Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males.
    Nat Genet. 2001 Oct;29(2):139-140.
  113. Armstrong SJ, Goldman AS, Speed RM, Hulten MA.
    Meiotic studies of a human male carrier of the common translocation, t(11;22), suggests postzygotic selection rather than preferential 3:1 MI segregation as the cause of liveborn offspring with an unbalanced translocation.
    Am J Hum Genet. 2000 Sep;67(3):601-609.
  114. Van Assche E, Staessen C, Vegetti W, Bonduelle M, Vandervorst M, Van Steirteghem A, Liebaers I.
    Preimplantation genetic diagnosis and sperm analysis by fluorescence in-situ hybridization for the most common reciprocal translocation t(11;22).
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