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Partial trisomy for the short arm of chromosome 2 due to familial balanced translocation

✍ Scribed by Gurbax Singh Sekhon; Kutay Taysi; Richard Rath

Publisher: Springer
Year: 1978
Tongue: English
Weight: 234 KB
Volume: 44
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00283579

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✦ Synopsis

A partial trisomy for the short arm of chromosome 2 (p21 leads to pter) was observed in a severely retarded infant with facial, skeletal, genital, renal, and CNS anomalies. The phenotypically normal mother and older brother had a balanced translocation between the short arm of chromosome 2 and the long arm of chromosome 14: 46, XX-XY,t(2;14)(p21;q32).

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