Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p.

ABSTRACT:

Introduction

Cri-du-chat syndrome is generally diagnosed when patients present a high-pitched cry at birth, microcephaly, ocular hypertelorism, and prominent nasal bridge. The karyotype is useful to confirm deletions in the short arm of chromosome 5 (5p-) greater than 10 Mb. In cases of smaller deletions, it is necessary to resort to other molecular techniques such as fluorescence in situ hybridization, multiplex ligation-dependent probe amplification (MLPA) or genomic array.

Case presentation

We report a family with an atypical deletion in 5p (mother and 2 children) and variable phenotypes compared with the literature. We applied a P064 MLPA kit to evaluate 5p- in the mother and the 2 children, and we used the Infinium CytoSNP-850K BeadChip genomic array to evaluate the sib

SUBMITTER: Almeida VT 

PROVIDER: S-EPMC9843554 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature