A severely retarded 18-year-old boy with tertiary partial trisomy 14.
- 1 June 1980
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 17 (3) , 230-232
- https://doi.org/10.1136/jmg.17.3.230
Abstract
An 18-year-old severely mentally and physically retarded boy was found to have an unbalanced chromosome complement 47,XY, + 14q-. He had the characteristic facial dysmorphis, abnormal hands, and other features described previously in cases of partial trisomy 14, but appears to be the oldest case reported. His mother is a reciprocal translocation carrier, and lack of other carriers in the family is noteworthy.Keywords
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