Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series

7q11.23 CNVs exhibit significant prenatal phenotypic variability and inheritance heterogeneity. Advanced genomic testing and inheritance pattern analysis are critical for accurate diagnosis and counseling.

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Publication Details

Journal
Molecular Genetics & Genomic Medicine
Published
2026-01-01
DOI
https://doi.org/10.1002/mgg3.70181
Primary Topic
Williams Syndrome Research
Type
article
Field-Weighted Citation Impact
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article

Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series

Yi Song, Jiong Yan, Nian Liu, Ziyang Liu
Molecular Genetics & Genomic Medicine
Williams Syndrome Research
article

Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series

Yi Song, Jiong Yan, Nian Liu, Ziyang Liu
article en

Abstract

7q11.23 CNVs exhibit significant prenatal phenotypic variability and inheritance heterogeneity. Advanced genomic testing and inheritance pattern analysis are critical for accurate diagnosis and counseling.

Molecular Genetics & Genomic MedicineVol. 14(1)
Southwest University (CN), Wuhan Children's Hospital (CN), Huazhong University of Science and Technology (CN)
Good health and well-being
Openalex Percentile: Top 95%
Williams Syndrome Research
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