Dataset Information

Clinical and molecular characterization of 12 prenatal cases of Cri-du-chat syndrome.

ABSTRACT:

Background

This study aimed to define the molecular basis for 12 prenatal cases of Cri-du-chat syndrome (CdCS) and the potential genotyping-phenotyping association.

Methods

Karyotyping and single nucleotide polymorphism array analyses for copy number variants were performed.

Results

Nine cases had 5p terminal deletions and three had 5p interstitial deletions, and these cases had variable deletion sizes with partial overlapping. Phenotypically, besides intrauterine growth restriction (IUGR) and brain as well as heart abnormalities, hypospadias, and lung dysplasia were observed. Potential genetic causes for specific phenotypes in these cases were identified.