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Partial trisomy 6p due to familial translocation t(6;20)(p21;p13)

✍ Scribed by Martijn H. Breuning; Jan B. Bijlsma; Henny F. France

Publisher: Springer
Year: 1977
Tongue: English
Weight: 349 KB
Volume: 38
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00295802

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✦ Synopsis

Cytogenetic findings in a case of partial trisomy 6p due to a translocation t(6;20)(p21;p13) and eleven balanced translocation heterozygotes are described. The clinical data of the proposita are compared with those of five other published cases. A partial trisomy 6p syndrome is postulated, characterized by: low birth weight, psychomotor retardation, craniofacial abnormalities (such as high prominent forehead, large fontanel, wide sagittal suture, blepharoptosis, low-set and/or malformed ears), congenital heart malformation, small kidneys, and proteinuria. Linkage studies have shown that the breakpoint in chromosome 6 involved in this translocation is close to the HLA gene cluster.

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