A severely retarded 18-year-old boy with tertiary partial trisomy 14.
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.
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D002901:Chromosomes, Human, 13-15; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy