EC Neurology

Rare syndrome caused by a deletion of the short arm of chromosome 5 (5p-). The main clinical features include a high-pitched cry, facial asymmetry, and microcephaly, round face at birth, epicanthic folds, hypotonic, delayed growth and development.

As a workout description, a new genomic region associated with microcephaly and cat-like cry and highlight the importance of precise delineation of 5p deletion breakpoints and detection of other CNVs in CdCS patients to improve genotype-phenotype correlation to perform a complete clinical and molecular diagnosis.

 Keywords: Cri du Chat Syndrome; Genotype-Phenotype Correlations; Chromosome 5 (5p-)

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