Clinical and molecular cytogenetic studies in ring chromosome 5: Report of a child with congenital abnormalities

We report here a child with a ring chromosome 5 (r(5)) associated with facial dysmorphology and multiple congenital abnormalities. Fluorescent in situ hybridization (FISH) using bacterial artificial chromosome (BAC) clones was performed to determine the breakpoints involved in the r(5). The 5p deletion extended from 5p13.2-3 to 5pter and measured 34.61 Mb (range: 33.7–35.52 Mb) while the 5q deletion extended from 5q35.3 to 5qter and measured 2.44 Mb (range: 2.31–2.57 Mb). The patient presented signs such as microcephaly, hypertelorism, micrognathia and epicanthal folds, partially recalling those of a deletion of the short arm of chromosome 5 and the “cri-du-chat” syndrome.The most striking phenotypic features were the congenital heart abnormalities which have been frequently reported in deletions of the distal part of the long arm of chromosome 5 and in rings leading to a 5q35-5qter deletion. However, the NKX2-5 gene, which has been related to congenital heart defects, was not deleted in our patient, nor presumably to some other patients with 5q35.3-5qter deletion. We propose that VEGFR3, deleted in our patient, could be a candidate gene for the congenital heart abnormalities observed.

► Here we present a child with ring chromosome 5 who presented dysmorphism and congenital heart defects.
► The 5p deletion measured 34.61 Mb and the 5q deletion 2.44 Mb
► No deletion of the NKX2-5 gene, known to be associated with heart defects, was found.
► We propose that VEGFR3, deleted in our patient, could be a candidate gene for congenital heart abnormalities.