49,XYYYY. A case report.
A 14-month-old boy with a 49,XYYYY karyotype is reported. The physical examination revealed unusual facial features, brachydactyly with clinodactyly, limitation of supination at the left elbow, and inguinal hernia. Radiological abnormalities of the skeleton and urinary tract were present, and the developmental examination showed a DQ of 70.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D002871:Chromosome Banding; D004550:Elbow / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities; D006552:Hernia, Inguinal / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D012729:Sex Chromosome Aberrations; D013131:Spine / Q000002:abnormalities; D014551:Urinary Tract / Q000002:abnormalities; D014998:Y Chromosome