Ring Chromosome 14 Syndrome: Prenatal diagnosis of two cases with 45,XY,-14/46,XY,r(14)(p11.2q32)

Two prenatally detected cases of 45,XY,-14/46,XY,r(14) are described. The breakpoints of the ring chromosome 14 at bands p11.2q32 were confirmed using fluorescence in situ hybridization (FISH). These cases are added to a growing number of cases of ring chromosome 14 syndrome reported since 1971. The r(14) syndrome is reviewed with emphasis on the clinical features that set it apart from “general ring syndrome”. Although individual cases show a variety of manifestations, the major clinical features include growth retardation, mental retardation, seizures, microcephaly and distinct dysmorphic facial features.