Genetic Analysis of 17q Terminal Partial Trisomy

Genetic Analysis of 17q Terminal Partial Trisomy

ABSTRACT Chromosomal trisomy syndrome is associated with diverse clinical phenotypes, including intellectual disability. Partial trisomy of the distal 17q is a rare anomaly with similar clinical features, including psychomotor and growth deficits, facial dysmorphism, and microcephaly. Here, we descr...

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Bibliographic Details
Main Authors: Huiling Zheng, Lin Zheng, Zhi Huang, Guangping Li, Daili Tang, Xue Yang, Tian Tian
Format: Article
Language:English
Published: Wiley 2024-12-01
Series:Clinical Case Reports
Subjects:
17q duplication
copy number variation
de novo mutation
karyotype
mosaicism
Online Access:https://doi.org/10.1002/ccr3.9611
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https://doi.org/10.1002/ccr3.9611

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