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Two familial cases with trisomy 15q dist due to a rcp(5;15)(p14;q21)

✍ Scribed by M. Tzancheva; M. Krachounova; Zv. Damjanova

Publisher: Springer
Year: 1981
Tongue: English
Weight: 228 KB
Volume: 56
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00274678

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## Abstract We describe the family of a balanced translocation carrier mother with the karyotype 46,XX,t(5,14)(p15,q13). In two of her five children 1:3 segregation occurred, resulting in del (14q) and dup (14q). The propositus with the dup (14q) has some of the typical manifestations of this syndr