Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

BACKGROUND: Cri-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. Prenatal di...

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Detalles Bibliográficos
Autores principales: Su, Jiasun, Fu, Huayu, Xie, Bobo, Lu, Weiliang, Li, Wei, Wei, Yuan, Zhang, Qiang, Wei, Shengkai, Chen, Qiuli, Lu, Yingchi, Jiang, Tingting, Luo, Jingsi, Qin, Zailong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6902614/
https://www.ncbi.nlm.nih.gov/pubmed/31827621
http://dx.doi.org/10.1186/s13039-019-0462-0

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