Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature
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DOI: 10.1186/s13039-019-0462-0
Abstract: BackgroundCri-du-chat syndrome (CdCS; OMIM#123450) is a classic contiguous gene syndrome caused by chromosome 5p terminal deletion (5p-), which characterized by a high-pitched cat-like cry, developmental delay, severe psychomotor, mental retardation, and dysmorphic features in infancy.… read more here.
Keywords: chat syndrome; diagnosis; snp array; cdcs ... See more keywords