The eye in the partial trisomy 2q syndrome.
Mandibulofacial dysostosis, mental retardation, skeletal, genital, and ocular malformations occurred in a family with partial trisomy of the long arm of chromosome 2. Translocations of chromatin material from the long arm of chromosome 2 to the short arm of chromosome 9 was balanced in the female carriers of the pedigree but was unbalanced among the males. Ocular signs in the males included uveal coloboma, anterior chamber angle anomalies as in Ringer's syndrome, congenital glaucoma with dislocated lens, exotropia, and blepharoconjunctivitis. These findings were related to an inherited malformation syndrome.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D002900:Chromosomes, Human, 1-3; D005132:Eye Manifestations; D005260:Female; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D014314:Trisomy