Prenatal case of Simpson–Golabi–Behmel syndrome with a de novo 370Kb‐sized microdeletion of Xq26.2 compassing partial GPC3 gene and review-Reference-Cited by-同舟云学术

Prenatal case of Simpson–Golabi–Behmel syndrome with a de novo 370Kb‐sized microdeletion of Xq26.2 compassing partial GPC3 gene and review

Published:2021-07-22 Issue:8 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Liu Jing¹²,Liu Qin¹,Yang Shuting¹,Ma Na¹^ORCID,Pang Jialun¹,Peng Ying¹²^ORCID,Xi Hui¹²,Jia Zhengjun¹,Luo Yingchun¹²,Jiang Meiping¹,Teng Yanling³,Yu Wenxian¹,Li Zhuo⁴^ORCID,Wang Hua¹²

Affiliation:

1. Department of Medical Genetics Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan China

2. National Health Commission Key Laboratory of Birth Defects ResearchPrevention and Treatment Changsha Hunan China

3. Hunan Jiahui Genetics Hospital Changsha Hunan China

4. Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics & Hunan Key Laboratory of Animal Models for Human Diseases School of Life Sciences Central South University Changsha Hunan China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1750

Reference28 articles.

1. Simpson-Golabi-Behmel syndrome: Congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case

2. Phenotypic Spectrum of Simpson-Golabi-Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC 3 and Review of the Literature

3. Simpson-Golabi-Behmel syndrome: Genotype/phenotype analysis of 18 affected males from 7 unrelated families

4. Xq26 duplications lead to undergrowth or overgrowth via competing pathways including GPC3/GPC4

5. Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome

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1. Maternal body fluid lncRNAs serve as biomarkers to diagnose ventricular septal defect: from amniotic fluid to plasma;Frontiers in Genetics;2023-09-06

2. Prenatal diagnosis of Simpson–Golabi–Behmel syndrome type 1 with an 814 kb Xq26.2 deletion with the initial presentation of a thick nuchal fold;Taiwanese Journal of Obstetrics and Gynecology;2023-01