The Rieger syndrome and a chromosome 13 deletion.
The Rieger syndrome, characterized by a prominent Schwalbe line, iris strands to the cornea, iris hypoplasia, dental abnormalities, facial malformations, and umbilical defects, is inherited in an autosomal dominant pattern. We studied a boy with the ocular features of the Rieger syndrome, micrognathia, and redundancy of the periumbilical skin. Chromosome analysis revealed an interstitial deletion of the long arm of chromosome 13 involving the distal region of band q14 through band q31. As there was a previous report of the Rieger syndrome in a child with an interstitial deletion of chromosome 13 (q12,q22), we suggest that a gene for this disorder may be located in the segment q14 to q22.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D005124:Eye Abnormalities; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics*; D014470:Umbilical Cord