Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome

Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome

ObjectiveOur study aimed to collect fetuses with recurrent 1q21.1 deletion or duplication syndrome for systematic clinical phenotype analysis to further delineate the intrauterine phenotype features of the two reciprocal syndromes.MethodsPrenatal samples, including amniotic fluid and chorionic villu...

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Bibliographic Details
Main Authors: Fengyang Wang, Huijuan Peng, Guiyu Lou, Yanxin Ren, Shixiu Liao
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Pediatrics
Subjects:
1q21.1 deletion syndrome
1q21.1 duplication syndrome
prenatal ultrasound phenotype
array CGH
CNV-seq
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1504122/full
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