[Prenatal diagnosis and genetic counseling of 20 fetuses with 15q11.2 BP1-BP2 microdeletion syndrome].

CNV-seq plays an important role in the prenatal diagnosis of 15q11.2 BP1-BP2 microdeletions. Such deletions may not always lead to disease phenotypes. Individualized consultation and long-term follow-up, in combination with intrauterine ultrasound and parental verification are necessary.

Authors

Xinyou Yu (ORCID: https://orcid.org/0000-0002-6721-9096)
Long-Hao Yang (ORCID: https://orcid.org/0000-0003-2239-1447)
Wei Bo (ORCID: https://orcid.org/0000-0002-3192-9483)
Xiaoyan Wang (ORCID: https://orcid.org/0000-0002-7281-1078)
Meijuan Li (ORCID: https://orcid.org/0000-0002-7687-1094)

Institutions

Ningxia Medical University (CN)
Ningxia Medical University General Hospital (CN)

Publication Details

Journal: PubMed
Published: 2025-01-10
DOI: https://doi.org/10.3760/cma.j.cn511374-20240808-00429
Primary Topic: Congenital heart defects research
Type: article

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article

[Prenatal diagnosis and genetic counseling of 20 fetuses with 15q11.2 BP1-BP2 microdeletion syndrome].

Xinyou Yu, Long-Hao Yang, Wei Bo, Xiaoyan Wang et al.

Jan 10, 2025

PubMed

Congenital heart defects research

article

[Prenatal diagnosis and genetic counseling of 20 fetuses with 15q11.2 BP1-BP2 microdeletion syndrome].

Xinyou Yu, Long-Hao Yang, Wei Bo, Xiaoyan Wang, Meijuan Li

January 10, 2025article en

Abstract

CNV-seq plays an important role in the prenatal diagnosis of 15q11.2 BP1-BP2 microdeletions. Such deletions may not always lead to disease phenotypes. Individualized consultation and long-term follow-up, in combination with intrauterine ultrasound and parental verification are necessary.

PubMedVol. 42(1)

Ningxia Medical University (CN), Ningxia Medical University General Hospital (CN)

Congenital heart defects research

DOI Source OpenAlex

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