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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. 8, No. 2, 2002, pp. 73-74
Bioline Code: hg02015
Full paper language: English
Document type: Research Article
Document available free of charge

Indian Journal of Human Genetics, Vol. 8, No. 2, 2002, pp. 73-74

 en Down syndrome with Fragment X - A case Report
Aruna N, Preetha Thilak, Sayee Rajangam


This article reports a case of four-month-old female infant referred to Division of Human Genetics, St. Johns' Medical College, for karyotyping with suspicion of Down syndrome. On karyotyping all analysed spreads showed trisomy 21 but a few spreads (6.66%) showed fragment X. X was broken at the centromere and both short and long arms were present in the spread. GTG bands of the two fragments correlated with the normal X counter parts. The mechanism behind isochromosome formation is discussed. Thus, this case is free trisomy 21 for Down syndrome and a mosaic for the X structural anomaly.

Isochromosome, trisomy21, fragment X, delX

© Copyright 2002 - The Indian Society of Human Genetics
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