A severely retarded 18-year-old boy with tertiary partial trisomy 14. Issue 3 (June 1980)

• Record Type: Journal Article
• Authors: Smith, A; den Dulk, G; Elliott, G
• Is Part Of: Journal of medical genetics. Volume 17:Issue 3(1980)
• Page Start: 230
• Page End: 232
• Publication Date: 1980-06
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.17.3.230
• Languages: English
• ISSNs: 1468-6244

Abstract

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.