Clinical and genetic analysis of a female child with duplications at 7p22.3p22.1 and Xp22.31p21.1: A case report

Our study underscores the importance of comprehensive clinical and genetic evaluation in individuals with duplication on the X chromosome and the terminal region of chromosome 7's short arm. We highlight the need for monitoring these patients for growth and sexual development issues. Our findings also suggest that chromosomal duplication can lead to severe clinical manifestations, emphasizing the critical role of genetic assessment in managing such cases.

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Publication Details

Journal
Medicine
Published
2025-02-07
DOI
https://doi.org/10.1097/md.0000000000041452
Primary Topic
Genomic variations and chromosomal abnormalities
Type
article
Field-Weighted Citation Impact
0.00
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article

Clinical and genetic analysis of a female child with duplications at 7p22.3p22.1 and Xp22.31p21.1: A case report

Congfan Bu, Ying Deng, Quansheng Xi
Medicine
Genomic variations and chromosomal abnormalities
article

Clinical and genetic analysis of a female child with duplications at 7p22.3p22.1 and Xp22.31p21.1: A case report

Congfan Bu, Ying Deng, Quansheng Xi
article en

Abstract

Our study underscores the importance of comprehensive clinical and genetic evaluation in individuals with duplication on the X chromosome and the terminal region of chromosome 7's short arm. We highlight the need for monitoring these patients for growth and sexual development issues. Our findings also suggest that chromosomal duplication can lead to severe clinical manifestations, emphasizing the critical role of genetic assessment in managing such cases.

MedicineVol. 104(6)
Sichuan University (CN), West China Second University Hospital of Sichuan University (CN), Tibet Autonomous Region People's Hospital (CN)
Good health and well-being
Openalex Percentile: Top 97%
Genomic variations and chromosomal abnormalities
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