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Please use this identifier to cite or link to this item: http://hdl.handle.net/1807/5930

Title: Case Report - Down syndrome child with 48,XXY,+21 karyotype
Authors: Cyrus, Cyril
Chandra, N.
Jegatheesan, T.
Chandralekha, K.
Ramesh, A.
Gopinath, P. M.
Marimuthu, K. M.
Keywords: Down syndrome, Klinefelter syndrome, double trisomy
Issue Date: 31-Dec-2005
Publisher: Medknow Publications on behalf of Indian Society of Human Genetics
Citation: Indian Journal of Human Genetics (ISSN: 0971-6866) Vol 11 Num 1
Abstract: 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.
URI: http://hdl.handle.net/1807/5930
Other Identifiers: http://www.bioline.org.br/abstract?id=hg05009
Rights: Copyright 2005 Indian Journal of Human Genetics.
Appears in Collections:Bioline International Legacy Collection

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