Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia.
We describe a girl born to a mother who took birth control pills and antihistamines during the first trimester of pregnancy. Congenital abnormalities included plagiocephaly, abnormalities of left ear, facial asymmetry, abnormalities of head hair pattern, cleft lip and palate, bifid tongue, left torticollis, hemivertebrae, left radial hypoplasia and absent thumb, left inguinal hernia, patient ductus arteriosus, narrowing of the thoracic aorta, and hypoplastic right pulmonary artery. The karyotype obtained from peripheral lymphocytes and from fibroblasts from the left side of the body was 46XX whereas fibroblasts from the right side revealed 46XX/47XX+7 mosaicism.
D002648:Child; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006053:Goldenhar Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis*; D009030:Mosaicism; D011859:Radiography; D011884:Radius / Q000002:abnormalities*; D014314:Trisomy