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

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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Bibliographic Details
Main Authors: Lei Liu, Tingying Lei, Fei Guo, Chunling Ma, Li Zhen, Lina Zhang, Dongzhi Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-08-01
Series:Frontiers in Genetics
Subjects:
distal 1q21.1 deletions
prenatal diagnosis
chromosomal microarray analysis
ultrasound findings
recurrent 1q21.1 microdeletion syndrome
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1448341/full

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https://www.frontiersin.org/articles/10.3389/fgene.2024.1448341/full

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