Cytogenetic analysis of a case of "13q- syndrome" (46,XX,del 13) using banding techniques.
Many chromosomal syndromes include ocular anomalies. In the del(13q) syndrome retinoblastoma, coloboma, and microphthalmia may be present. In the del(13q) case we report, the findings include colobomas and apparent microphthalmia, although the retinoblastoma sometimes associated with this condition was not observed. More precise descriptions of the del(13q) syndrome relative to the region deleted using improved banding techniques may: (1) increase the likelihood of accurate diagnosis, (2) enhance clinical predictions, and (3) possibly further clarify the genetic control over the development of the ocular system.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D002869:Chromosome Aberrations / Q000150:complications*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D003103:Coloboma / Q000150:complications; D003582:Cytogenetics; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008831:Microcephaly / Q000150:complications; D008850:Microphthalmos / Q000150:complications; D012160:Retina / Q000002:abnormalities; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities