Partial trisomy 6p due to familial translocation t(6;20)(p21;p13) |
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Authors: | Martijn H. Breuning Jan B. Bijlsma Henny F. de France |
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Affiliation: | (1) Department of Human Genetics, University of Amsterdam, Sarphatistraat 217, Amsterdam, The Netherlands |
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Abstract: | Summary 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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