Down syndrome child with 48,XXY,+21 karyotype

Indian Journal of Human Genetics

Volumn 11, Issue 1, 2005, Pages 47-48

  Cyril, Cyrus ^a   Chandra, N ^a   Jegatheesan, T ^b   Chandralekha, K ^b   Ramesh, A ^a   Gopinath, P M ^c   Marimuthu, K M ^d  

^a UNIVERSITY OF MADRAS   (India)

^b MADRAS MEDICAL COLLEGE   (India)

^c KASTURBA MEDICAL COLLEGE   (India)

^d NONE   (India)

Author keywords

Double trisomy; Down syndrome; Klinefelter syndrome

Indexed keywords

ANEUPLOIDY; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; DOWN SYNDROME; GENE TRANSLOCATION; HUMAN; INFANT; KARYOTYPE; MALE; MORPHOLOGICAL TRAIT; TRISOMY 21; X CHROMOSOME; X CHROMOSOME ABERRATION;

ROBERTSONIA;

EID: 33645539736     PISSN: 09716866     EISSN: None     Source Type: Journal    
DOI: 10.4103/0971-6866.16296     Document Type: Article

References (10)

1. Lorda-Sanchez I, Petersen MB, Binkert F, Maechler M, Schmid W, Adelsberger PA, et al. A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21. Hum Genet 1991;87:54-6.
2. Yamaguchi T, Hamasuna R, Hasui Y, Kitada S, Osada Y. 47,XXY/ 48,XXY,+21 chromosomal mosaicism presenting as hypospadias with scrotal transposition. J Urol 1989;142:797-8.
3. Taylor AI, Moores EC. A sex chromatin survey of newborn children in two London hospitals. J Med Genet 1967;4:258.
4. Hecht F, Nievaard JE, Duncanson N, Miller JR, Higgins JV, Kimberling WJ, et al. Double aneuploidy: The frequency of XXY in males with Down syndrome. Am J Hum Genet 1969;21:352-9.
5. Ford CE, Jones KW, Miller OJ, Mittwoch U, Penrose LS, Ridler M, et al. The chromosomes in a patient showing both mongolism and the Klinefelter syndrome. Lancet 1959;1:709-10.
6. Iliopoulos D, Poultsides G, Peristeri V, Kouri G, Andreou A, Voyiatzis N. A Double trisomy (48,XXY,+21 ) in monozygotic twins: Case report and review of the literature. Ann de Genet 2004;47:95-8.
7. Al Awadi SA, Naguib KK, Bastaki L, Gouda S, Mohammed F M, Abulhasan SJ, et al. Down syndrome in Kuwait: Recurrent familial trisomy 21 in siblings. Downs Syndr Res Pract 1998;5:131-7.
8. Mikkelsen M, Fisher G, Stene J, Stene E, Petersen E. Incidence study of Down syndrome in Copenhagen, 1960 -1971: With chromosome investigation. Ann Hum Genet 1976;40:177-82.
9. Stene J, Stene E, Mikkelsen M. Risk of chromosome abnormality at amniocentesis following a child with a non-inherited chromosome aberration. Prenat Diag 1984;4:81-95.
10. Rajangam S, Verghese M, Tilak P, Thomas IM. A 48,XXY,+21 - Down / Klinefelter Syndrome. J Clin Genet Tribal Res 1996;2:126-9.