Epidemiology of double aneuploidies involving chromosome 21 and the sex chromosomes

American Journal of Medical Genetics

Volumn 134 A, Issue 1, 2005, Pages 24-32

  Kovaleva, Natalia V ^a,b   Mutton, David E ^c  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b St Petersburg Ctr for Med Genet   (Russian Federation)

^c QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

Chromosome 21; Double aneuploidy; Maternal age; Paternal age; Sex chromosomes

Indexed keywords

KARYOTYPE 48,XXX; UNCLASSIFIED DRUG;

ANEUPLOIDY; ARTICLE; CHROMOSOME 21; CYTOGENETICS; FEMALE; GENETIC PREDISPOSITION; HUMAN; KARYOTYPE; KARYOTYPE 48,XXY; KARYOTYPE 48,XYY; MAJOR CLINICAL STUDY; MALE; MATERNAL AGE; NONDISJUNCTION; PATERNAL AGE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REGISTER; SEX CHROMOSOME; UNITED KINGDOM;

ABNORMALITIES, MULTIPLE; ANEUPLOIDY; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 21; CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; DOWN SYNDROME; ENGLAND; FEMALE; HUMANS; KARYOTYPING; MALE; MATERNAL AGE; PATERNAL AGE; REGISTRIES; SEX CHROMOSOME ABERRATIONS; WALES;

EID: 15744365616     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30306     Document Type: Article

References (127)

1. Al-Aish MS, Dodson WE, Plato CC. 1971. Down's syndrome with XYY: 48,XYY,G+. Am J Dis Child 121:444-446.
2. Al-Awadi SA, Krishna Murthy DS, Farag TI. 1997. Cytogenetic profile of DS in Kuwait. Cytogenet Cell Genet 77(Suppl 1):7.
3. Ali FA, Al Arrayed SS, Sanad H, Al Abbasi A. 2000. Double aneuploidy: Down's syndrome associated with Klinefelter's syndrome. Am J Hum Genet 67(Suppl 4):159.
4. Baird PA, Sadovnick AD. 1988. Maternal age-specific rates for Down syndrome: Changes over time. Am J Med Genet 29:917-927.
5. Ballesta F, Queralt R, Gomez D, Solsona E, Guitart M, Ezquerra M, Moreno J, Oliva R. 1999. Parental origin and meiotic stage of non-disjunction in 139 cases of trisomy 21. Ann Genet 42:11-15.
6. Banguena Candela R, Forteza Bover G, Ortitz Hernandez MD, Comin Ferrer J. 1966. Un caso con estigmas del sindrome de Bonnevie-Ullrich y de mongolismo y cariotipo 45/XO- trisomia G. Med Espanola 4:454-461.
7. Blanco J, Rubio C, Simon C, Egozcue J, Vidal F. 1997. Increased incidence of disomic sperm nuclei in a 47XYY male assessed by fluorescent in situ hybridization (FISH). Hum Genet 99:413-416.
8. Borgaonkar DS. 1997. Chromosomal variation in man. A catalog of chromosomal variants and anomalies. 8th edition. New York: John Wiley & Sons, Inc.
9. Brahe C, Tassone F, Moscetti A, Millington-Ward A, Bova R, Serra A. 1990. Molecular study of parental origin of extra chromosome 21 in regular and de novo translocation trisomie. Am J Med Genet 7(Suppl):125-128.
10. Buchanan PD. 1975. Three chromosomal abnormalities (trisomy 21,XXY, and a de novo reciprocal translocation) in a child with 48,XX,+21,T(P22-24;P12). Humangenetik 28:313-316.
11. Caron L, Tihy F, Dallaire L. 1999. Frequencies of chromosomal abnormalities at amniocentesis: Over 20 years of cytogenetic analyses in one laboratory. Am J Med Genet 82:149-154.
12. Casalone R, Fraccaro M, Francesconi D, Pasquali F, et al. 1979. Five unusual karyotypes in Down's syndrome. Ann Genet 22:17-20.
13. Castel Y, Le Marec B, Toudic L, Lemarchand M, Cosson JP. 1983. Association of trisomy 21 and gonosomal trisomy. Apropos of 2 cases. Pédiatrie 38:235-241.
14. Chen ATL, Sergovich FR, McKim JS, Barr ML, Gruber D. 1970. Chromosome studies in full-term, low-birth-weight, mentally retarded patients. J Pediatr 76:393-398.
15. Chevret E, Rousseaux S, Monteil M, Usson Y, Cozzi J, Pelletier R, Sele B. 1997. Meiotic behaviour of sex chromosomes investigated by three-colour FISH on 35142 sperm nuclei from two 47,XYY males. Hum Genet 99:407-412.
16. Christoderescu D, Berbescu C, Retezeanu A, Constantinescu E, Ciupitu A, Urse M, Radu M. 1977. The incidence of Down's syndrome in Bucharest. A retrospective survey. Neurol Psychiatr (Bucur) 15:147-154.
17. Coerdt W, Rehder H, Gausmann I, Johannisson R, Gropp A. 1985. Quantitative histology of human fetal testes in chromosomal diseases. Pediatr Pathol 3:245-259.
18. Court Brown WM, Harnden DG, Jacobs PA, Maclean N, Mantle DJ. 1964. Abnormalities of the sex chromosome complement in man. London: HMSO.
19. Dailey T, Dale B, Cohen J, Munne S. 1996. Association between non-disjunction and maternal age in meiosis-II human oocytes. Am J Hum Genet 59:176-184.
20. Day RW, Wright SW, Koons A, Quigley M. 1963. XXX G-trisomy and retinoblastoma. Lancet ii:154-155.
21. de Grouchy J, Emerit I, de Gennes J-L, Vernant P. 1965. Syndrome de Klinefelter chez un garçon trisomique 21 âgé de six ans. Presse Médicale 73:1209-1212.
22. Dicholkar W. 1989. Variant of Y-chromosome. DAE Symp Human Genet, Ahmedabad, February 6-7, 1989. Bombay, pp 259-260.
23. Dorant B, Limon J, Martynska L. 1980. Trisomy 21 associated with XYY karyotype. Endokrynol Pol 31:279-283.
24. Eskenazi B, Wyrobek AJ, Kidd SA, Lowe X, Moore D II, Weisiger K, Aylstock M. 2002. Hum Reprod 17:576-583.
25. Evans JA, Hunter AGW, Hamerton JL. 1978. Down syndrome and recent demographic trends in Manitoba. J Med Genet 15:43-47.
26. Ferguson-Smith MA, Yates JRW. 1984. Maternal age-specific rates for chromosome aberrations and factors influencing them: Report of a collaborative European study on 52 965 amniocenteses. Prenat Diagn 4(Special issue):5-45.
27. Fernandez-Garcia R, Garcia-Doval S, Costoya S, Pasaro E. 2000. Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome: A study of 'hidden' mosaicism. Clin Genet 58:201-208.
28. Fisch H, Hyun G, Golden R, Hensle TW, Olsson CA, Liberson GL. 2003. The influence of paternal age on Down syndrome. J Urol 69:2275-2278.
29. Ford CE, Jones KW, Miller OJ, Mittwoch U, Penrose LS, Ridler M, Shapiro A. 1959. The chromosomes in a patient showing both mongolism and the Klinefelter syndrome. Lancet i:709-710.
30. Forrester MB, Merz RD. 2002. Epidemiology of Down syndrome (trisomy 21), Hawaii, 1986-1997. Teratology 65:207-212.
31. Gardner RJM, Veale AMO, Parslow MI, Becroft DMO, Shaw RL, Fitzgerald PH, Hitchings HE, McCreanor HR, Wong J, Eiby JR, Howarth DA, Whyte SE. 1973. A survey of 972 cytogenetically examined cases of Down's syndrome. N Z Med J 78:403-409.
32. Giorlandino C, Calugi G, Iaconianni L, Santoro ML, Lippa A. 1998. Spermatozoa with chromosomal abnormalities may result in a higher rate of recurrent abortion. Fertil Steril 70:576-577.
33. Gobbi U, Burroni M, Licci A, Perrotta F, Magistrelli R, Quintini G, Saccucci F, Milani Comparetti M. 1980. Two cases of very rare double 48,XXX,+21 trisomy. Minerva Pediatr 32:133-138.
34. Gollop TR, Naccache NF, Auler-Bittencourt E, Hauschild D, Eigier A, Zveibil DK. 1991. Prenatal diagnosis of 48,XYY+21 ascertained through ultrasound anomalies. Am J Med Genet 39:76-77.
35. Grell RF. 1971. Distributive pairing in man? Ann Genet 14:165-171.
36. Griffin DK, Abruzzo MA, Millie EA, Sheean L, Feingold E, Sherman SL, Hassold TJ. 1995. Non-disjunction in human sperm: Evidence for an effect of increasing age. Hum Mol Genet 4:2227-2232.
37. Gusmão FAF, Tavares EJM, de Azevedo Moreira LM. 2003. Maternal age and Down syndrome in Northeast Brazil. Cad Saúde Pública 19:973-978.
38. Hamerton JL, Jagiello GM, Kizman BH. 1962. Sex-chromosome abnormalities in a population of mentally defective children. Br Med J 1:220-223.
39. Hamerton JL, Gianelli F, Polani PE. 1965. Cytogenetics of Down's syndrome (mongolism). I. Data on a consecutive series of patient referred for genetic counselling and diagnosis. Cytogenetics 4:171-185.
40. Hanhardt E. 1960. 800 Falle von Mongoloidismus (Down's syndrome) in Konstitutioneller Betrachtung. Arch Julius Stift 35:1-132.
41. Hanter H, Quaife R. 1973. A 48,XYYY male: A somatic and psychiatric description. J Med Genet 10:80-82.
42. Hassold T, Arnovitz K, Jacobs PA, May K, Robinson D. 1991. The parental origin of missing or additional chromosome in 45,X and X females. Birth Defects Orig Artic Ser 26:297-304.
43. Hassold T, Abruzzo M, Adkins K, Griffin D, Merrill M, Millie E, Saker D, Shen J, Zaragoza M. 1996. Human aneuploidy: Incidence, origin, and etiology. Environ Mol Mutagen 28:167-175.
44. Hecht F, Nievaard JE, Duncanson N, Miller JR, Higgins JV, Kimberling WJ, Walker FA, Smith GS, Thuline HC, Tischler B. 1969. Double aneuploidy: The frequency of XXY in males with Down's syndrome. Am J Hum Genet 21:352-359.
45. Hook EB. 1992. Chromosome abnormalities: Prevalence, risk, and recurrence. In: Brock DJH, Rodeck CH, Ferguson-Smith MA, editors. Prenatal diagnosis and screening. Edinburgh: Chirchill-Livingston. pp 351-391.
46. Hsu LYF, Strauss L, Alter AV, Kim HJ, Hirschhorn K. 1975. Prenatal diagnosis of double trisomy. Am J Dis Child 129:381-382.
47. 21XXY). Ann Hum Genet 25:111-115.
48. Ikonen RS, Lindlof M, Janas MO, Simola KOJ, Millington-Ward A, de la Chapelle A. 1989. Coincident maternal meiotic nondisjunction of chromosomes X and 21 without evidence of autosomal asynapsis. Hum Genet 83:235-238.
49. Iselius L, Lindsten J. 1986. Changes in the incidence of Down syndrome in Sweden during 1968-1982. Hum Genet 72:133-139.
50. Jacobs PA, Strong JA. 1959. Case of human intersexuality having possible XXY sex-determining mechanism. Nature (London) 183:302-303.
51. Kallen B. 1996. Down syndrome and other chromosome anomalies. EPC report: 4.
52. Karini-Nejad MH, Azimi F, Nabavi N, Takyar T, Alavi K. 1997. Cytogenetic analysis of 1250 cases of Down syndrome. Med Genet 9:69.
53. Kikuchu Y, Oishi H, Tonomura A, Yamada K, Tanaka Y, Kurita T, Matsunaga E. 1969. Translocation Down's syndrome in Japan: Its frequency, mutation rate of translocation, and parental age. Jpn J Hum Genet 14:93-106.
54. Kinakin B, Rademaker A, Martin R. 1997. Paternal age effect of YY aneuploidy in human sperm, as assessed by fluorescent in situ hybridization. Cytogenet Cell Genet 78:116-119.
55. Kovaleva NV. 1992. Distributive pairing and aneuploidy in man. Genetika (Russia) 28:5-15.
56. Kovaleva NV. 2002. Sex ratio in Down syndrome. A review. Tsitol Genet 36:90-105.
57. Kovaleva NV, Butomo IV, Verlinskaya DK, Ilyashenko TN, Pantova IG, Prozorova MV, Khitrikova LE, Shandlorenko SK. 1999. Karyological characterization of Down syndrome: Clinical and theoretical aspects. Tsitologiia 41:1014-1021.
58. Lanman JT, Sklarin BS, Cooper HL, Hirschhorn K. 1960. Klinefelter's syndrome in a ten-month-old mongoloid idiot. N Engl J Med 263:887-890.
59. Laxova R, McKeown JA, Saldana P, Timothy JAD. 1971. A case of XYY Down's syndrome confirmed by autoradiography. J Med Genet 8:215-219.
60. Le Marec B, Picard F, Grall JY, Serville F, Engel A, Le Mee F, Fauchet R. 1977. The descendants of 47,XYY subjects. Apropos of a family. J Gynecol Obstet Biol Reprod (Paris) 6:749-762.
61. Leary PM, Webb PM, Melzer CW, Close HG. 1975. Down's syndrome with additional XYY aneuploidy. Clin Genet 8:55-58.
62. Lehmann O, Forssman H. 1960. Klinefelter's syndrome and mongolism in the same person. Acta Paediatr (Uppsala) 49:536.
63. Lejeune J, Gautier M, Turpin R. 1959. Etude des chromosomiques somatiques de neuf enfants mongoliens. C R Acad Sci (Paris) 248:1721-1722.
64. Lindenbaum RH, Hulten M, McDermott A, Seabrige M. 1985. The prevalence of translocations in parents of children with regular trisomy 21: A possible interchromosomal effect? J Med Genet 22:24-28.
65. Lindsjo A. 1974. Down's syndrome in Sweden. An epidemiological study of a three-year material. Acta Paediatr Scand 63:571-576.
66. Lindsten J, Marsk L, Berglund K, Iselius L, Ryman N, Anneren G, Kjessler B, Mitelman F, Noerdenson I, Wahlstrom J, Veilens L. 1981. Incidence of Down's syndrome in Sweden during the years 1968-1977. Human Genet Suppl 2:195-210.
67. Lorber BJ, Grantham M, Peters J, Willard HF, Hassold TJ. 1992. Nondisjunction of chromosome 21: Comparisons of cytogenetic and molecular studies of the meiotic stage and parent of origin. Am J Hum Genet 51:1265-1276.
68. Lorda-Sanchez I, Petersen MB, Binkert F, Maechler M, Schmid W, Adelsberger PA, Antonarakis SE, Schinzel A. 1991. A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21. Hum Genet 87:54-56.
69. Lorda-Sanchez I, Binkert F, Maechler M, Robinson WP, Schinzel AA. 1992. Reduced recombination and paternal age effect in Klinefelter syndrome. Hum Genet 89:524-530.
70. Lowe X, Eskenazi B, Nelson DO, Kidd S, Alme A, Wyrobek AJ. 2001. Frequency of XY sperm increases with age in fathers of boys with Klinefelter syndrome. Am J Hum Genet 69:1046-1054.
71. MacDonald M, Hassold T, Harvey J, Wang LH, Morton NE, Jacobs P. 1994. The origin of 47,XX and 47,XXX aneuploidy: Heterogenous mechanisms and role of aberrant recombination. Hum Mol Genet 3:1365-1371.
72. Martin RH, McInnes B, Rademaker AW. 1999. Analysis of aneuploidy for chromosome 13, 21, X, and Y by multicolor fluorescence in situ hybridization (FISH) in a 47,XYY male. Zygote 7:131-134.
73. Martin-DeLeon PA, Boice ML. 1982. Sperm aging in the male and cytogenetic anomalies. An animal model. Hum Genet 62:70-77.
74. Melnyk J, Thompson H, Rucci AJ, Vanasek F, Hayes S. 1969. Failure of transmission of the extra chromosome in subjects with 47,XYY karyotype. Lancet 2:797-798.
75. Michelena MI de, Burstein E, Lama JR, Vásquez JC. 1993. Paternal age as a risk factor for Down syndrome. Am J Med Genet 45:679-682.
76. Migeon BR. 1965. Trisomy in an XYY male. Hum Chrom Newsl 17:16.
77. Mikiel-Kostyra K, Kurniewicz R, Sioch R. 1980. Coexistence of Down's syndrome with Klinefelter's syndrome. Pediatr Pol 55:71-75.
78. Mikkelsen M, Fischer G, Stene J, Stene E, Petersen E. 1976. Incidence study of Down's syndrome in Copenhagen, 1960-1971; with chromosome investigation. Ann Hum Genet 40:177-182.
79. Mikkelsen M, Poulsen H, Grinsted J, Lange A. 1980. Non-disjunction in trisomy 21: Study of chromosomal heteromorphisms in 110 families. Ann Hum Genet 44:17-28.
80. Mikkelsen M, Poulsen H, Nielsen KG. 1990. Incidence, survival, and mortality in Down syndrome in Denmark. Am J Med Genet 7(Suppl): 75-78.
81. Mikkelsen M, Hallberg A, Poulsen H, Frantzen M, Hansen J, Petersen MB. 1995. Epidemiological study of Down syndrome in Denmark, including family studies of chromosomes and DNA markers. Dev Brain Disfunct 8:4-12.
82. Milcou S, Maicanesco M. 1963. Syndrome de Klinefelter associé au mongolisme et à l'ectopie testiculaire bilatérale. Pathol Biol 11:1247-1250.
83. Moog U, Hamers G, Hoogland H. 1998. Prenatal sonographic diagnosis of nuchal edema and double aneuploidy (48,XXY,+21): Discrepancy between results of chorionic villi and amniotic fluid sampling. J Clin Ultrasound 26:228-229.
84. Mulcahy MT. 1979. Down's syndrome in Western Australia: Cytogenetics and incidence. Hum Genet 48:67-72.
85. Murken JD, Lippoldmüller E, Spiess H. 1972. XYY-syndrom und trisomie 21 (48,XYY,21+). Zum Phanotyp kombinierter autosomaler und gonosomaler Chromosomen-Aberrationen. Monatsschr Kinderheilkd 120:469-471.
86. Murthy DS, Farag TI. 1995. Recurrent regular trisomy 21 in two Bedouin families. Parental mosaicism versus genetic predisposition. Ann Genet 38:217-224.
87. Mutchinick O, Matayoshi T. 1979. Down's syndrome with XYY sex complement. Rev Invest Clin 31:377-379.
88. Mutton DE, Alberman ED, Hook EB. 1996. Cytogenetic and epidemiological findings in Down syndrome, England, and Wales 1989 to 1993. National Down Syndrome Cytogenetic Register and the Association of Clinical Cytogeneticists. J Med Genet 33:387-394.
89. Nazarenko SA, Vassiljeva EO, Nazarenko LP. 1991. Diagnostics and prevention of chromosome diseases. In: Advances in clinical Cytogenetics. Moskow. 20p.
90. Neu RL, Scheuer AQ, Gardner LI. 1971. A case of 48,XYY,21+ in an infant with Down's syndrome. J Med Genet 8:533-535.
91. Novosel V. 1990. 48,XXY,21+ karyotype in a new-born child. Acta Biol Jugosl Genet 22:191-193.
92. Osztovics MK, Ivady G, Buhler EM. 1971. XYY chromosomal complement, proven by fluorescence, in a child with trisomy 21: 48,XYY,21+. Humangenetik 13:144-150.
93. Pangalos C, Avramopoulos D, Blouin JL, Raoul O, deBlois MC, Prieur M, Schinzel AA, Gika M, Abazis D, Antonarakis SE. 1994. Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis. Am J Hum Genet 54:473-481.
94. Papp Z, Osztovics M, Schuler D, Mehes K, Czeizel E, Horvath L, Szemere G, Laszlo J. 1977. Down's syndrome: Chromosome analysis in 362 cases in Hungary. Hum Hered 27:305-309.
95. Park VM, Bravo RR, Shulman LP. 1995. Double non-disjunction in maternal meiosis II giving rise to a fetus with 48,XXX,+21. J Med Genet 32:650-653.
96. Petersen MB, Antonarakis SE, Hassold TJ, Freeman SB, Sherman SL, Avramopoulos D, Mikkelsen M. 1993. Paternal nondisjunction in trisomy 21: Excess of male patients. Hum Mol Genet 2:1691-1695.
97. Pfeiffer RA. 1964. Doppelte Aneuploidie (trisomie 21 and XXY) bei einen Saugling. Arch Kinderheilkd 171:69-79.
98. Prieto F, Badia L, Asenci F, Moya A, Figuera MJ. 1981. Pericentric inversions of chromosome 12 in two families. Hum Genet 57:131-133.
99. Robbins WA, Baulch JE, Moore D II, Weier HU, Blakey D, Wyrobek AJ. 1995. Three-probe fluorescence in situ hybridization to assess chromosome X, Y, and 8 aneuploidy in sperm of 14 men from two healthy groups: Evidence for a paternal age effect on sperm aneuploidy. Reprod Fertil Dev 7:799-809.
100. Robinson DO, Jacobs PA. 1999. The origin of the extra Y chromosome in males with a 47,XYY karyotype. Hum Mol Genet 8:2205-2209.
101. Robinson WP, McFadden DE, Stephenson MD. 2001. The origin of abnormalities in recurrent aneuploidy/polyploidy. Am J Hum Genet 69:1245-1254.
102. Rogers RC, Phelan MC, Pulliam L, Albiez K. 1986. Double aneuploidy. Proc Greenwood Genet Ctr 5:49-57.
103. Rubio C, Simon C, Blanco J, Vidal F, Minguez Y, Egozcue J, Crespo J, Remohi J, Pellicer A. 1999. Implications of sperm chromosome abnormalities in recurrent miscarriage. J Assist Reprod Genet 16:253-258.
104. Saura R, Longy M, Sautarael M, Renouil M, Sandler B. 1983. Double trisomy and transmitted pericentric inversion (48,XXY,+21,inv(22)). Interchromosomal effect. Ann Genet 26:180-182.
105. Schmidt R, Sokol S, Nitowsky HM. 1978. Origin of extra chromosomes in 48,XYY+21 aneuploidy. Am J Hum Genet 30:A93.
106. Shapiro A, Ridler MAC. 1960. The incidence of Klinefelter's syndrome in a mental deficiency hospital. J Ment Defic Res 4:48-50.
107. Sheu B-C, Shyu M-K, Lee C-N, Kuo B-J, Tseng Y-Y, Hsieh F-J. 1998. Maternal age-specific risk of Down syndrome in an Asian population: A report of the Taiwan Down syndrome screening group. Prenat Diagn 18:675-682.
108. Smith A, Watson G, Michas J, Vifrsbach R, Ellwood D. 1991. Post-mortem findings in a fetus with 48,XXY,+21. Prenat Diagn 11:471-476.
109. Stabile M, Cantore R, Munno A, Bartiromo U, De Falco FA. 1994. Association of Down syndrome and Klinefelter syndrome in a young male, compatible with a double event of non-disjunction in the mother. Acta Med Auxol 26:127-131.
110. Staples AJ, Sutherland GR, Haan EA, Clisby S. 1991. Epidemiology of Down syndrome in South Australia, 1960-1989. Am J Hum Genet 49:1014-1024.
111. Stene E, Stene J, Stengel-Rutkowski S. 1987. A reanalysis of the New York State prenatal diagnosis data on Down's syndrome and paternal age effect. Hum Genet 77:299-302.
112. Stevens J, Lin A, Gettig E, Filkins K, McPherson E. 1995. Another case of prenatally diagnosed 48,XYY,+21. Am J Med Genet 55:509-511.
113. Stoll C, Frey D, Willard D, Messer J. 1976. Down's syndrome with XYY additional aneuploidy. Hum Genet 34:85-88.
114. Taylor AI, Moores EC. 1967. A sex chromatin survey of newborn children in two London hospitals. J Med Genet 4:258-259.
115. Teramoto H, Nomura K, Tanaka SI, Sunahori K, Ohama K. 1985. A case of 48,XYY,+21. Hiroshima J Med Sci 34:173-175.
116. Thomas NS, Collins AR, Hassold TJ, Jacobs PA. 2000. A reinvestigation of non-disjunction resulting in 47,XXY males of paternal origin. Eur J Hum Genet 8:805-808.
117. Townsend G. 1982. Dentition of a 48,XYY,+21 male. Hum Genet 61:267-268.
118. Tsvetkova TG, Solonichenko VG, Freydin MI. 1991. A case of double chromosome nondisjunction: Trisomy 21 and double Y. In: Advances in clinical cytogenetics. Moskow. p 71.
119. Tupinevich GS, Zakirova LK. 1998. Rare cases of coincidence of Down syndrome with Shereshevsky-Turner syndrome. In: Current problems of diagnostics, treatment, and prevention of hereditary diseases in children. Moskow. p 63.
120. Turpin R, Thoyer-Rozat J, Lafourcade J, Lejeune J, Caille B, Kesseler A. 1964. Coincidence de mongolisme et de syndrome de Klinefelter chez l'un et l'autreax d'une paire monozygote. Pediatrie 19:43-52.
121. Uchida IA. 1970. Epidemiology of mongolism: The Manitoba study. Ann NY Acad Sci 171:361-369.
122. Uchida IA, Ray M, Duncan BP. 1966. 21 trisomy with an XYY sex chromosome complement. J Pediatr 69:295-298.
123. van Gelderen HH, Hustinx TWJ. 1961. Combinatie van het Klinefelter-syndroom met mongolisme. Ned Tijdschr Geneesk 105:1925-1928.
124. Verma IC, Malhotra AK, Malik GR, Ghai OP. 1979. Cytogenetic profile of Down's syndrome in India. Indian J Med Res 69:147-151.
125. Verma IC, Mathews AR, Faquih A, El-Zouki AA, Malik GR, Mohammed F. 1990. Cytogenetic analysis in Libya. Indian J Pediatr 57:245-248.
126. Verresen H, van den Berghe H. 1965. 21-trisomy and XYY. Lancet i:609.
127. Wong HB, Chua TS. 1979. The significance of human chromosome abnormalities in Singapore. J Singapore Paediatr Soc 21:38-45.