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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Mol Cytogenet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2019
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6902614/
https://ncbi.nlm.nih.gov/pubmed/31827621
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-019-0462-0
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi