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Genetic analysis of three familial cases of pure terminal 19p13.3 duplication caused by maternal balanced translocation t(19;21) (p13.3;p12)

IntroductionThis study presents a genetic analysis of three-generation family exhibiting terminal 19p13.3 duplication resulting from a maternal balanced translocation, t (19; 21) (p13.3; p12). Additionally, we reviewed previously reported cases with similar aberrations.MethodsPeripheral blood or amn...

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Main Authors: Jia-yan Chen, Mei-jiao Cai, Xiao-lu Chen, Yun-sheng Ge
Format: Artigo
Language:Inglês
Published: Frontiers Media S.A. 2026-06-01
Series:Frontiers in Genetics
Subjects:
19p13.3 microduplication syndrome
CELF5
developmental delay
DOHH
FZR1
intrauterine growth restriction
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2026.1827876/full
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