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

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. Prenatal diag...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Molecular cytogenetics 2019, Vol.12, p.49-49
Hauptverfasser: 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
Format: Report
Sprache:eng
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!