Trisomy 8 syndrome. A psychological and somatic study of a mentally non-retarded male with 46,XY/47,XY,+8 chromosome constitution.
A 27-year-old, non-retarded male with trisomy 8 mosaicism (46,XY/47,XY,+8) had a short head, a short broad-bridged nose, a protruding upper lip, pterygium colli, moderate kypho-scoliosis, camptodactyly of all fingers and deep furrowing on the soles. Radiographic examination of columna showed spina bifida of L1 and fusion of L5 and S1. These findings are characteristic for the trisomy 8 syndrome. A psychological study showed a personality characterized by immaturity and lack of spontaneity and self-confidence. An intelligence test (WAIS) placed him within the normal range, but presented an uneven development of the cognitive functions with special difficulties in synthetic abilities and visual scanning. His auditive span was rather low, and his memory functions were somewhat below average.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002906:Chromosomes, Human, 6-12 and X; D005145:Face / Q000002:abnormalities; D006801:Humans; D007361:Intelligence Tests; D008297:Male; D010551:Personality; D011581:Psychological Tests; D016136:Spina Bifida Occulta / Q000235:genetics; D013577:Syndrome; D014314:Trisomy