Case Report: A rare chromosomal imbalance with dup 7q36.3-qter and del 7pter-p22.3 arising from parental pericentric inversion

Case Report: A rare chromosomal imbalance with dup 7q36.3-qter and del 7pter-p22.3 arising from parental pericentric inversion

Chromosomal abnormality is a significant cause of neurodevelopmental delay and congenital malformation. Only a few cases of chromosome 7 imbalances with both duplication of the distal long arm (7q) and deletion of the distal short arm (7p) have been reported without a systematic analysis of the geno...

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Main Authors: Rongbo Lin, Wenhui Zhang, Mingwei Huang, Yansheng Shen, Jianxiang Liao, Ping Song, Ying Qi, Jie He, Yuanxiang Xia, Jing Duan, Yuanzhen Ye, Qiuwei Yi, Pei Lan, Lingyu Kong, Zhanqi Hu
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Genetics
Subjects:
neurodevelopmental delay
facial dysmorphism
chromosome 7 imbalance
dup 7q36.3-qter
del 7pter-p22.3
parental pericentric inversion
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1564711/full
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