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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 11, No. 1, 2005, pp. 47-48
Bioline Code: hg05009
Full paper language: English
Document type: Research Article
Document available free of charge

Indian Journal of Human Genetics, Vol. 11, No. 1, 2005, pp. 47-48

 en Case Report - Down syndrome child with 48,XXY,+21 karyotype
Cyrus Cyril, Chandra N., Jegatheesan T., Chandralekha K., Ramesh A., Gopinath P.M., Marimuthu K.M.


Cytogenetic analysis in 60 clinically suspected cases of Down syndrome and their parents was carried out using conventional Giemsa-trypsin-banding technique. Fifty-five individuals (91%) exhibited a free trisomy 21. Robertsonian translocations were seen in three cases and two cases exhibited a normal karyotype. A four-month-old child, the second-born of non-consanguineous parents, possessed an extra X chromosome in addition to trisomy 21. The proband′s parents and his brother showed a normal karyotype. The phenotypic characteristics of this child have been discussed in the light of the published reports on double aneuploidies of XXY and trisomy 21.

Down syndrome, Klinefelter syndrome, double trisomy

© Copyright 2005 Indian Journal of Human Genetics.
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