A male case with double aneuploidy (48,XXY,+21)

Genetic Counseling

Volumn 19, Issue 1, 2008, Pages 59-63

  Akbas, E ^a   Soylemez, Fatma ^a   Savasoglu, K ^a   Hallioglu, O ^a   Balci, S ^a  

^a MERSIN UNIVERSITY   (Turkey)

Author keywords

Chromosome anomaly; Double aneuploidy; Down Syndrome; Klinefelter Syndrome

Indexed keywords

ANAMNESIS; ANEUPLOIDY; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DOWN SYNDROME; HUMAN; KARYOTYPE; MALE; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD;

ANEUPLOIDY; CHILD, PRESCHOOL; DOWN SYNDROME; GENOTYPE; HUMANS; KARYOTYPING; MALE; PHENOTYPE;

EID: 44649185588     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. BAGCI H., BAGCI G., LULECI G.: A case of XXY, 21+. J. Health Sci., 1989, 1, 323-326.
2. FORD C.E., JONES K.W., MILLER O.J., MITTWOCH U., PENROSE L.S., RIDLER M. SHAPIRO A.: The chromosomes in a patient showing both mongolism and the Klinefelter syndrome. Lancet, 1959, 1, 709-710.
3. GLASS I.A., LI L., COTTER P.D.: Double aneuploidy (48,XXY,+21): molecular analysis demonstrates a maternal origin. Eur. J. Med. Genet., 2006, 49, 346-348.
4. HECHT F., NIEVAARD J.E., DUNCANSON N., MILLER J.R., HIGGINS J.V., KIMBERLING W.J., WALKER F.A., SMITH G.S., THULINE H.C., TISCHLER B.: Double aneuploidy: The frequency of XXY in males with Down syndrome. Am. J. Hum. Genet., 1969, 21, 352-359.
5. ILIOPOULOS D., POULTSIDES G., PERISTERI V., KOURI G., ANDREOU A., VOYIATZIS N.: Double trisomy (48, XXY, +21) in monozygotic twins: case report and review of the literature. Ann. Genet., 2004, 47, 95-98.
6. IMIRZALIOGLU N., OZEN R.S., BAHCE M., LENK K., TUNCA Y., BALTACI V., OGUR G.: Down-XXY Syndrome: A Case Report. Gulhane Tip Dergisi, 1999, 1, 96-98.
7. KOVALEVA N.V., MUTTON D.E.: Epidemiology of Double Aneuploidies Involving Chromosome 21 and the Sex Chromosomes. Am. J. Med. Genet., 2005, 134, 24-32.
8. LORDA-SANCHEZ I., PETERSEN M.B., BINKERT F., MAECHLER M., SCHMID W., ADELSBERGER P.A., ANTONARAKIS S.E., SCHINZEL A.: A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21. Hum. Genet., 1991, 87, 54-56.
9. 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, 177-182.
10. RAJANGAM S., VERGHESE M., TILAK P., THOMAS I.M.: A 48,XXY,+21 - Down / Klinefelter Syndrome. J. Clin. Genet. Tribal Res., 1996, 2, 126-129.
11. 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.
12. VISOOTSAK J., GRAHAM J.M.: Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet. J. Rare Dis., 2006, 1, 42.
13. 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, 797-798.