ChromosOmics - Database

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                                                                      - REFERENCES -                                                                   
for START and BASICS pages

      0. Liehr et al. unpublished data
  1. Hook EB, Hamerton JL
    The frequency of chromosome abnormalities detected in consecutive newborn studies - differences between studies - results by sex and by severity of phenotypic involvement.
    In: Hook EB, Porter IH (eds): Population Cytogenetics. New York, Academic Press Inc: 63-79; 1977.
  2. Buckton KE, Spowart G, Newton MS, Evans HJ.
    Forty four probands with an additional "marker" chromosome.
    Hum Genet. 1985;69(4):353-370.
  3. Benn PA, Hsu LY.
    Incidence and significance of supernumerary marker chromosomes in prenatal diagnosis.
    Am J Hum Genet. 1984 Sep;36(5):1092-1102.
  4. Crandall BF, Lebherz TB, Rubinstein L, Robertson RD, Sample WF, Sarti D, Howard J.
    Chromosome findings in 2,500 second trimester amniocenteses.
    Am J Med Genet. 1980;5(4):345-356.
  5. Daniel A, Stewart L, Saville T, Brookwell R, Paull H, Purvis-Smith S, Lam-Po-Tang PR.
    Prenatal diagnosis in 3,000 women for chromosome, X-linked, and metabolic disorders.
    Am J Med Genet. 1982 Jan;11(1):61-75.
  6. Squire JA, Nauth L, Ridler MA, Sutton S, Timberlake C.
    Prenatal diagnosis and outcome of pregnancy in 2036 women investigated by amniocentesis.
    Hum Genet. 1982;61(3):215-222.
  7. Nielsen J, Rasmussen K.
    Extra marker chromosome in newborn children.
    Hereditas. 1975;81(2):221-224.
  8. Froland A, Holst G, Terslev E
    Multiple anomalies associated with an extra small autosome.
    Cytogenetics 1963; 2:99-106.
  9. Chudley AE, Zheng HZ, Pabello PD, Shia G, Wang HC.
    Familial supernumerary microchromosome mosaicism: phenotypic effects and an attempt at characterization.
    Am J Med Genet. 1983 Sep;16(1):89-97.
  10. Martin RH, Hildebrand KA, Yamamoto J, Peterson D, Rademaker AW, Taylor P, Lin CC.
    The meiotic segregation of human sperm chromosomes in two men with accessory marker chromosomes.
    Am J Med Genet. 1986 Oct;25(2):381-388.
  11. Prieto F, Badia L
    Trisomy 21 with translocation 21/21 in two children of a mother with an extra microchromosome.
    Trisomy 21. Burgio GR, Fraccaro M, Tiepolo L, Wolf U (eds) Berlin, Heidelberg, new York, Springer Verlag p251.
  12. Ferguson-Smith MA, Yates JR.
    Maternal age specific rates for chromosome aberrations and factors influencing them: report of a collaborative european study on 52 965 amniocenteses.
    Prenat Diagn. 1984 Spring;4 Spec No:5-44.
  13. Warburton D.
    Outcome of cases of de novo structural rearrangements diagnosed at amniocentesis.
    Prenat Diagn. 1984 Spring;4 Spec No:69-80.
  14. Hook EB, Cross PK.
    Extra structurally abnormal chromosomes (ESAC) detected at amniocentesis: frequency in approximately 75,000 prenatal cytogenetic diagnoses and associations with maternal and paternal age.
    Am J Hum Genet. 1987 Feb;40(2):83-101. Erratum in: Am J Hum Genet 1988 Jan;42(1):210.
  15. Sachs ES, Van Hemel JO, Den Hollander JC, Jahoda MG.
    Marker chromosomes in a series of 10,000 prenatal diagnoses. Cytogenetic and follow-up studies.
    Prenat Diagn. 1987 Feb;7(2):81-89.
  16. 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.
  17. Jacobs PA, Melville M, Ratcliffe S, Keay AJ, Syme J.
    A cytogenetic survey of 11,680 newborn infants.
    Ann Hum Genet. 1974 May;37(4):359-376.
  18. Hamerton JL, Canning N, Ray M, Smith S.
    A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities.
    Clin Genet. 1975 Oct;8(4):223-243.
  19. Nielsen J, Wohlert M.
    Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark.
    Hum Genet. 1991 May;87(1):81-83.
  20. Stengel-Rutkowski S, Nummermann C.
    [Prenatal diagnostic on chorion - article in German]
    Informationsblatt 6, Arbeitsgruppe der Abtlg. f. Pädiatrische Genetik und Pränatale Diagnostik d. Kinderpoliklinik d. Universität München, 1991.
  21. Blennow E, Telenius H, Larsson C, de Vos D, Bajalica S, Ponder BA, Nordenskjold M.
    Complete characterization of a large marker chromosome by reverse and forward chromosome painting.
    Hum Genet. 1992 Dec;90(4):371-374.
  22. Friedrich U, Nielsen J.
    Bisatellited extra small metacentric chromosome in newborns.
    Clin Genet. 1974;6(1):23-31.
  23. Nielsen J, Sillesen I.
    Incidence of chromosome aberrations among 11148 newborn children.
    Humangenetik. 1975 Oct 20;30(1):1-12.
  24. Sergovich F, Valentine GH, Chen AT, Kinch RA, Smout MS.
    Chromosome aberrations in 2159 consecutive newborn babies.
    N Engl J Med. 1969 Apr 17;280(16):851-855.
  25. Walzer S, Gerald PS
    A chromosome survey of 13751 male newborns.
    In: Hook EB, Porter IH (eds): Population Cytogenetics. New York, Academic Press Inc: 45-61; 1977.
  26. Lubs HA, Ruddle FH.
    Chromosomal abnormalities in the human population: estimation of rates based on New Haven newborn study.
    Science. 1970 Jul 31;169(944):495-497.
  27. Bochkov NP, Kuleshov NP, Chebotarev AN, Alekhin VI, Midian SA.
    Population cytogenetic investigation of newborns in Moscow.
    Humangenetik. 1974 May 17;22(2):139-152
  28. Ilberry PLT, Lee CWG, Winn SM.
    Incomplete trisomy in a mongoloid child exhibiting minimal stigmata
    Medical Journal of Australia 1961, 48: 182-184.
  29. Walzer S, Breau G, Gerald PS.
    A chromosome survey of 2,400 normal newborn infants.
    J Pediatr. 1969 Mar;74(3):438-448.
  30. Price WH, Brunton M, Buckton K, Jacobs PA.
    Chromosome survey of new patients admitted to the four maximum security hospitals in the United Kingdom.
    Clin Genet. 1976 Apr;9(4):389-398.
  31. Borgaonkar S, Schimke RN, Thomas H.
    Report of five unrelated patients with a small, metacentric, extra chromosome or fragment.
    J Genet Hum. 1971 Sep;19(3):207-222.
  32. Den Dulk GM, Turner B, Lee C, Quoyle J.
    Chromosomal abnormality: cases with additional chromosome fragments.
    Med J Aust. 1966 Oct 8;2(15):695-697.
  33. Hoehn H, Reinwein H, Engel W.
    Genetic studies on a minute centric fragment transmitted through three generations.
    Cytogenetics. 1970;9(3):186-198.
  34. Buckton KE, O'Riordan ML, Ratcliffe S, Slight J, Mitchell M, McBeath S, Keay AJ, Barr D, Short M.
    A G-band study of chromosomes in liveborn infants.
    Ann Hum Genet. 1980 Jan;43(3):227-239.
  35. Dahoun-Hadorn S, Delozier-Blanchet C.
    Reflections on small supernumerary (marker) chromosomes: could imprinting and isodisomy play a role in the phenotypic expression of hyperdiploidy?
    Ann Genet. 1990;33(4):241-242.
  36. Engel E.
    Uniparental disomy revisited: the first twelve years.
    Am J Med Genet. 1993 Jul 1;46(6):670-674.
  37. Kotzot D.
    Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence?
    J Med Genet. 2002 Oct;39(10):775-778.
  38. Kotzot D.
    Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15.
    Am J Med Genet. 2002 Sep 1;111(4):366-375.
  39. Kotzot D.
    Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.
    J Med Genet. 2001 Aug;38(8):497-507.
  40. Kotzot D, Lurie IW, Mehes K, Werder E, Schinzel A.
    No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation.
    Clin Genet. 2000 Sep;58(3):177-180.
  41. Kotzot D.
    Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15.
    Am J Med Genet. 1999 Jan 29;82(3):265-274.
  42. Daniel A, Malafiej P.
    A Series of supernumerary small ring marker autosomes identified by FISH with chromosome probe arrays and literature review excluding chromosome 15.
    Am J Med Genet. 2003 Mar 15;117A(3):212-222.
  43. Warburton D.
    De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints.
    Am J Hum Genet. 1991 Nov;49(5):995-1013.
  44. Crolla JA.
    FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature.
    Am J Med Genet. 1998 Feb 3;75(4):367-381.
  45. Anderlid BM, Sahlen S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, Speleman F, Blennow E.
    Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy.
    Am J Med Genet. 2001 Mar 15;99(3):223-233.
  46. 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.
  47. Tan-Sindhunata G, Castedo S, Leegte B, Mulder I, vd Veen AY, vd Hout AH, Wiersma TJ, van Essen AJ.
    Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype.
    Am J Med Genet. 2000 May 15;92(2):147-152.
  48. Fryns JP, Kleczkowska A, Van den Berghe H.
    Small accessory chromosomes (SAC) and their genotype--phenotype correlation.
    J Genet Hum. 1982 Oct;30(3):215-232.
  49. Cheung SW, Crane JP, Beaver H.
    Correlation between phenotypic expression of de novo marker chromosomes and genomic organization using replicational banding.
    Prenat Diagn. 1990 Nov;10(11):717-724.
  50. 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.
  51. Anderlid BM, Sahlen S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, Speleman F, Blennow E.
    Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy.
    Am J Med Genet. 2001 Mar 15;99(3):223-233.
  52. 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.
  53. Brondum-Nielsen K, Mikkelsen M.
    A 10-year survey, 1980-1990, of prenatally diagnosed small supernumerary marker chromosomes, identified by FISH analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12,699 prenatal samples.
    Prenat Diagn. 1995 Jul;15(7):615-619.
  54. Hall JG.
    Genomic imprinting: review and relevance to human diseases.
    Am J Hum Genet. 1990 May;46(5):857-873.
  55. 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.
  56. Carrasco Juan JL, Otero Gomez A, Vilar Mesa MC, Garcia Miranda JL, Troyano Luque JM, Lopez Ramon y Cajal C, Parache Hernandez J.
    Small marker chromosomes in a series of 1,000 prenatal diagnoses by amniocentesis.
    Ann Genet. 1990;33(1):40-42.
  57. 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.
  58. Soudek D, Sroka H.
    C-bands in seven cases of accessory small chromosomes.
    Clin Genet. 1977 Nov;12(5):285-289.
  59. Steinbach P, Djalali M, Hansmann I, Kattner E, Meisel-Stosiek M, Probeck HD, Schmidt A, Wolf M.
    The genetic significance of accessory bisatellited marker chromosomes.
    Hum Genet. 1983;65(2):155-164.
  60. Perez-Castillo A, Martin-Lucas MA, Abrisqueta JA.
    Evidence for lack of specificity of the DA/DAPI technique.
    Cytogenet Cell Genet. 1987;45(1):62.
  61. Wuu KD, Wuu SW, Liu IW.
    A cytogenetic survey of mentally retarded children in Taiwan: final report on the incidence of chromosome abnormalities.
    Proc Natl Sci Counc Repub China B. 1984 Jan;8):83-88.
  62. 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.
  63. Bühler EM, Malik NJ.
    DA/DAPI heteromorphisms in acrocentric chromosomes other than 15.
    Cytogenet Cell Genet. 1988;47(1-2):104-105.
  64. Hoo JJ, Drummond M, Parslow MI, Chambers D.
    The ring nature of a tiny supernumerary chromosome fragment.
    Am J Med Genet. 1980;5(4):331-337.
  65. Mau UA, Bäckert IT, Kaiser P, Kiesel L.
    Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection.
    Hum Reprod. 1997 May;12(5):930-937.
  66. Paoloni-Giacobino A, Morris MA, Dahoun SP.
    Prenatal supernumerary r(16) chromosome characterized by multiprobe FISH with normal pregnancy outcome.
    Prenat Diagn. 1998 Jul;18(7):751-752.
  67. Djalali M.
    The significance of accessory bisatellited marker chromosomes in amniotic fluid cell cultures.
    Ann Genet. 1990;33(3):141-145.
  68. Hook EB, Schreinemachers DM, Willey AM, Cross PK.
    Rates of mutant structural chromosome rearrangements in human fetuses: data from prenatal cytogenetic studies and associations with maternal age and parental mutagen exposure.
    Am J Hum Genet. 1983 Jan;35(1):96-109.
  69. 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.
  70. Maurer B, Haaf T, Stout K, Reissmann N, Steinlein C, Schmid M.
    Two supernumerary marker chromosomes, originating from chromosomes 6 and 11, in a child with developmental delay and craniofacial dysmorphism.
    Cytogenet Cell Genet. 2001;93(3-4):182-187.
  71. Ridler MA, Berg JM, Pendrey MJ, Saldana P, Timothy JA.
    Familial occurrence of a small, supernumerary metacentric chromosome in phenotypically normal women.
    J Med Genet. 1970 Jun;7(2):148-152.
  72. Rivera H, Moller M, Hernandez A, Enriquez-Guerra MA, Arreola R, Cantu JM.
    Tetrasomy 18p: a distinctive syndrome.
    Ann Genet. 1984;27(3):187-189.
  73. Soudek D, McCreary BD, Laraya P, Dill FJ.
    Two kinships with accessory bisatellited chromosomes.
    Ann Genet. 1973 Jun;16(2):101-107.
  74. Vermeesch JR, Duhamel H, Petit P, Falzetti D, Fryns JP, Marynen P.
    Multiple small accessory marker chromosomes from different centromeric origin in a moderately mentally retarded male.
    Hum Genet. 1999 Dec;105(6):611-618.
  75. Plattner R, Heerema NA, Patil SR, Howard-Peebles PN, Palmer CG.
    Characterization of seven DA/DAPI-positive bisatellited marker chromosomes by in situ hybridization.
    Hum Genet. 1991 Jul;87(3):290-296.
  76. 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.
  77. Blennow E, Tillberg E.
    Small extra ring chromosome derived from chromosome 10p: clinical report and characterisation by FISH.
    J Med Genet. 1996 May;33(5):399-402.
  78. 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.
  79. Lin CC, Meyne J, Sasi R, Moyzis RK.
    Apparent lack of telomere sequences on double minute chromosomes.
    Cancer Genet Cytogenet. 1990 Sep;48(2):271-274.
  80. 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.
  81. 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.
  82. Felbor U, Rutschow D, Haaf T, Schmid M.
    Centromeric association of chromosome 16- and 18-derived microchromosomes.
    Hum Genet. 2002 Jul;111(1):16-25.
  83. Haaf T, Sumner AT, Kohler J, Willard HF, Schmid M, Summer AT.
    A microchromosome derived from chromosome 11 in a patient with the CREST syndrome of scleroderma.
    Cytogenet Cell Genet. 1992;60(1):12-7. Erratum in: Cytogenet Cell Genet 1992;61(3):following 223
  84. Patil SR, Waziri M
    ”Hitch-hiking” chromatin material of unknown origin.
    Am J Hum Genet 34:137A
  85. 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.
  86. Schmid M, Haaf T, Schindler D, Meurer M.
    Centromeric association of a microchromosome. A new category of non-random arrangement of metaphase chromosomes.
    Hum Genet. 1989 Jan;81(2):127-136.
  87. Rivera H, Dominguez MG, Vasquez AI, Mejia-Baltodano G.
    A further microchromosome with centromeric association.
    Genet Couns. 1997;8(4):323-326.
  88. Hoo JJ, Forster C, Kindermann I, Zabel B, Hansen S.
    Supernumerary small ring chromosome.
    Humangenetik. 1974;25(1):17-28.
  89. Connor JM, Gilmore DH.
    An analysis of the parental age effect for inv dup (15).
    J Med Genet. 1984 Jun;21(3):213-214.
  90. Eggermann K, Mau UA, Bujdoso G, Koltai E, Engels H, Schubert R, Eggermann T, Raff R, Schwanitz G.
    Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases.
    Clin Genet. 2002 Jul;62(1):89-93.
  91. Hou JW, Wang TR.
    Unusual features in children with inv dup(15) supernumerary marker: a study of genotype-phenotype correlation in Taiwan.
    Eur J Pediatr. 1998 Feb;157(2):122-127.
  92. Kirkilionis AJ, Sergovich FR.
    Supernumary marker chromosomes in a mentally retarded population identified as inv dup(15).
    Clin Genet. 1987 Jun;31(6):425-428.
  93. Mattei MG, Souiah N, Mattei JF.
    Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.
    Hum Genet. 1984;66(4):313-334.
  94. Tsukahara M, Endo F, Aoki Y, Matsuo K, Kajii T.
    Familial supernumerary non-satellited microchromosome.
    Clin Genet. 1986 Sep;30(3):226-229.
  95. 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.
  96. Fitzgerald PH, Mercer JM.
    Elimination of an abnormal cell line from blood lymphocytes during post-natal growth.
    Clin Genet. 1980 Jun;17(6):433-436.
  97. Yoshida A, Miura K, Shirai M.
    Cytogenetic survey of 1,007 infertile males.
    Urol Int. 1997;58(3):166-176.
  98. Maeda T, Ohno M, Matsunobu A, Yoshihara K, Yabe N.
    A cytogenetic survey of 14,835 consecutive liveborns.
    Jinrui Idengaku Zasshi. 1991 Mar;36(1):117-129.
  99. Bourrouillou G, Dastugue N, Colombies P.
    Chromosome studies in 952 infertile males with a sperm count below 10 million/ml.
    Hum Genet. 1985;71(4):366-367.
  100. Kaluzewski B, Helszer Z, Constantinou M, Burkholder SW, Coutinho WG, Skorski M, Corridori L, Anderson CE, Sherwood M, Debiec-Rychter M, Jackson LG.
    Extra structurally abnormal chromosomes (ESACs)--presentation of 10 new cases.
    Med Sci Monit. 2001 May-Jun;7(3):427-434.
  101. Baschat AA, Kupker W, al Hasani S, Diedrich K, Schwinger E.
    Results of cytogenetic analysis in men with severe subfertility prior to intracytoplasmic sperm injection.
    Hum Reprod. 1996 Feb;11(2):330-333.
  102. Jensen PK, Hansen P.
    A bisatellited marker chromosome in an infant with the caudal regression anomalad.
    Clin Genet. 1981 Feb;19(2):126-129.
  103. Johnson LD, Harris RC, Henderson AS.
    Ribosomal DNA sites in a metacentric chromosome fragment.
    Humangenetik. 1974;21(3):217-219.
  104. Martin RH, Mahadevan MM, Taylor PJ, Hildebrand K, Long-Simpson L, Peterson D, Yamamoto J, Fleetham J.
    Chromosomal analysis of unfertilized human oocytes.
    J Reprod Fertil. 1986 Nov;78(2):673-678.
  105. Matsuda T, Nonomura M, Okada K, Hayashi K, Yoshida O.
    Cytogenetic survey of subfertile males in Japan.
    Urol Int. 1989;44(4):194-197.
  106. Ellis JR, Marshall R, Penrose LS.
    An aberrant small acrocentric chromosome.
    Ann Hum Genet. 1962 Jul;26:77-83.
  107. Pandiyan N, Jequier AM.
    Mitotic chromosomal anomalies among 1210 infertile men.
    Hum Reprod. 1996 Dec;11(12):2604-2608.
  108. Testart J, Gautier E, Brami C, Rolet F, Sedbon E, Thebault A.
    Intracytoplasmic sperm injection in infertile patients with structural chromosome abnormalities.
    Hum Reprod. 1996 Dec;11(12):2609-2612.
  109. 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.
  110. Hens L, Bonduelle M, Liebaers I, Devroey P, Van Steirteghem AC.
    Chromosome aberrations in 500 couples referred for in-vitro fertilization or related fertility treatment.
    Hum Reprod. 1988 May;3(4):451-457.
  111. Stephane P, Genevieve L.
    Prenatal supernumerary r(16) chromosome characterized by multiprobe FISH with normal pregnancy outcome.
    Prenat Diagn. 1999 Feb;19(2):181-182.
  112. 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.
  113. Stefanou EG, Crocker M.
    A chromosome 21-derived minute marker in a mosaic trisomy 21 background: implications for risk assessments in marker chromosome cases.
    Am J Med Genet. 2004 Jun 1;127A(2):191-193.
  114. Hou JW, Wang TR, Chuang SM.
    An epidemiological and aetiological study of children with intellectual disability in Taiwan.
    J Intellect Disabil Res. 1998 Apr;42 ( Pt 2):137-143.
  115. Palka G, Guanciali-Franchi P, Clementini E, Tiboni GM, Palka C, Iezzi I,  Di Tecco A, Morizio E, Fantasia D, Marino M, Stuppia L, Calabrese G, Dallapiccola B
    Chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques (ART).
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 142 (Abstractnummer 686).
  116. Shaffer BL, Caughey AB, Cotter PD, Norton ME
    Variation in the decision to terminate pregnancy in the setting of an abnormal karyotype with uncertain significance.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 494 (Abstractnummer 2756).
  117. Kodama Y.
    Cytogenetic and dermatoglyphic studies on severely handicapped patients in an institution.
    Acta Med Okayama. 1982 Oct;36:383-397.
  118. Bourgeois M, Benezech M.
    [Cytogenic survey of 600 mentally retarded hospitalized patients]
    Encephale. 1977;3:189-202. French.
  119. Singh DN, Osborne RA, Paul JR, Catoe S, Katzberg A, Hennigar GR, Barnett CD.
    Cytogenetic survey of 504 mentally retarded individuals.
    J Ment Defic Res. 1974;18:293-305.
  120. Liehr T, Claussen U, Starke H.
    Small supernumerary marker chromosomes (sSMC) in humans.
    Cytogenet Genome Res. 2004;107(1-2):55-67.
  121. Liehr T, Mrasek K, Weise A, Kuechler A, von Eggeling F, Claussen U, Starke H.
    Characterization of small supernumerary marker chromosomes (sSMC) in human.
    Current Genomics 2004, 5: 279-286.
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