title: Congenital ocular and other systemic abnormalities associated with ring-11 chromosome.
abstract: The ocular and systemic abnormalities in a boy with ring chromosome 11 [46, XY/46, XY, r(11) (p 15.5----q25] are described. The ocular anomalies consisted of bilateral hypermetropia, microcornea, anterior chamber cleavage syndrome with prominent Wölfflin nodes, and cartwheel configuration of the anterior iris leaf. The systemic changes consisted of skeletal, muscular and articular defects, obesity, cryptorchidism, and mild mental retardation.
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D002648:Child; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002906:Chromosomes, Human, 6-12 and X; D003582:Cytogenetics; D005123:Eye / Q000473:pathology / Q000503:physiopathology; D005124:Eye Abnormalities; D006228:Hand Deformities, Congenital; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000502:physiology; D008297:Male; D008831:Microcephaly / Q000150:complications; D011859:Radiography; D012303:Ring Chromosomes; D013737:Testis / Q000002:abnormalities*