Familial 5.29 Mb deletion in chromosome Xq22.1–q22.3 with a normal phenotype: a rare pedigree and literature review

Familial 5.29 Mb deletion in chromosome Xq22.1–q22.3 with a normal phenotype: a rare pedigree and literature review

Abstract Background Xq22.1–q22.3 deletion is a rare chromosome aberration. The purpose of this study was to identify the correlation between the phenotype and genotype of chromosome Xq22.1–q22.3 deletions. Methods Chromosome aberrations were identified by copy number variation sequencing (CNV-seq) t...

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Bibliographic Details
Main Authors: Hui-Hui Xu, Yang Zhang, Zhe-Hang He, Xing-Hong Di, Fei-Yan Pan, Wei-Wu Shi
Format: Article
Language:English
Published: BMC 2023-05-01
Series:BMC Medical Genomics
Subjects:
Xq22.1–q22.3 deletion
Chromosome aberrations
Birth defect
Copy number variation (CNV)
Next-generation sequencing (NGS)
Genetic counselling
Online Access:https://doi.org/10.1186/s12920-023-01547-2

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