Prenatal diagnosis of the recurrent 1q21.1 microdeletions in fetuses with ultrasound anomalies and review of the literature

ObjectiveThe recurrent 1q21.1 microdeletion syndrome is an autosomal dominant disorder and is characterized by dysmorphic facial features, microcephaly, developmental delay, and congenital defects. However, most studies on the distal deletions in the 1q21.1 region were diagnosed postnatally. This st...

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Bibliografiske detaljer

Principais autores:	Lei Liu, Tingying Lei, Fei Guo, Chunling Ma, Li Zhen, Lina Zhang, Dongzhi Li
Format:	Artigo
Sprog:	Inglês
Udgivet:	Frontiers Media S.A. 2024-08-01
Serier:	Frontiers in Genetics
Fag:	distal 1q21.1 deletions prenatal diagnosis chromosomal microarray analysis ultrasound findings recurrent 1q21.1 microdeletion syndrome
Online adgang:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1448341/full
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