Rieger's syndrome with pericentric inversion of chromosome 6.
Pericentric inversion of chromosome 6 (6p+q-) was found in a girl with Rieger's syndrome and in her father. The only ocular signs in the father were prominent iris mounds and Schwalbe's line. The association of chromosomal anomalies with Rieger's syndrome indicates the need for a chromosome banding test in familial or sporadic patients with the syndrome and in patients with mild anomalies of the anterior chamber angle.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D000867:Anterior Chamber / Q000002:abnormalities*; D002648:Child; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007223:Infant; D007498:Iris / Q000002:abnormalities*; D007621:Karyotyping; D008297:Male; D013577:Syndrome