A case of de novo reciprocal translocation t(1;4)(q21;25) associated with Rieger syndrome

Rieger syndrome (MIM No{sup *}180500) is characterized by malformation of the anterior chamber of the eye, hypodontia, and the failure of the periumbilical skin to involute. Recently, consistent chromosomal abnormalities within 4q23{r_arrow}q27 have been reported with Rieger syndrome, and significant linkage of Rieger syndrome to 4q markers has been identified. Here we present a case of Rieger syndrome with de novo t(1;4)(q21,q25). The propositus was the first product of a 37-year-old mother and unrelated 42-year-old father. He was born at 41 weeks of gestation. Birth weight was 3,955 g length 50.0 cm, and OFC 37.0 cm. He had irregular shaped pupils with a prominent Schwalbe`s line, umbilical hernia, bilateral vesico-ureteral regurgitation, gall stones, infantile spasms, and hypoplasia of the corpus callosum and agenesis of the anterior commissure. This and other previous reports suggest that the gene for Rieger syndrome maps to the 4q25{r_arrow}q26 segment. A cell line from our patient will contribute to isolating the gene for Rieger syndrome.