Characterization of the Prenatal Ultrasound Phenotype Associated With 7q11.23 Microduplication Syndrome and Williams–Beuren Syndrome

Our study describes a series of new ultrasound features identified prenatally in fetuses with 7q11.23 microduplications and microdeletions with the intent of expanding the prenatal phenotype associated with copy number variants in this chromosomal region. Additional studies are needed to clearly delineate specific prenatal features associated with these rare genetic entities.

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Publication Details

Journal
Prenatal Diagnosis
Published
2024-09-20
DOI
https://doi.org/10.1002/pd.6669
Primary Topic
Williams Syndrome Research
Type
article
Field-Weighted Citation Impact
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article

Characterization of the Prenatal Ultrasound Phenotype Associated With 7q11.23 Microduplication Syndrome and Williams–Beuren Syndrome

Guiyu Lou, Huijuan Peng, Fengyang Wang, Shixiu Liao et al.
Prenatal Diagnosis
Williams Syndrome Research
article

Characterization of the Prenatal Ultrasound Phenotype Associated With 7q11.23 Microduplication Syndrome and Williams–Beuren Syndrome

Guiyu Lou, Huijuan Peng, Fengyang Wang, Shixiu Liao, Yanxin Ren
article en

Abstract

Our study describes a series of new ultrasound features identified prenatally in fetuses with 7q11.23 microduplications and microdeletions with the intent of expanding the prenatal phenotype associated with copy number variants in this chromosomal region. Additional studies are needed to clearly delineate specific prenatal features associated with these rare genetic entities.

Prenatal DiagnosisVol. 44(11)
Zhengzhou University (CN), Henan Provincial People's Hospital (CN)
Good health and well-being
Openalex Percentile: Top 81%
Williams Syndrome Research
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