Partial trisomy 6p due to familial translocation t(6;20)(p21;p13)
- 1 January 1977
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 38 (1) , 7-13
- https://doi.org/10.1007/bf00295802
Abstract
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.This publication has 9 references indexed in Scilit:
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