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Down syndrome with unusual chromosome translocation: case report and review
L Bruni1, R Capolino, M C Tozzi
1Istituto di Pediatria, Universita La Sapienza di Roma, Italie.
Annales De Genetique
|January 1, 1996
Abstract:
We report a case of Down syndrome with unusual chromosome translocation. The proband is a 1 year old male with 47, XY, der (5) t(5;21) (q11:q21), + der (5) t(5;21). The mother's karyotype was 46 XX, der (5) t(5,21) (q11:q21). The chromosome imbalance resulted from 3:1 meiotic segregation.