Advance in research on microdeletion/microduplications at Xp22.3.
10.3760/cma.j.issn.1003-9406.2020.05.022
- Author:
Yan ZENG
1
;
Jianjun ZHANG
Author Information
1. Center for Prenatal Diagnosis, Shaoxing Women and Children's Health Care Hospital, Shaoxing, Zhejiang 312000, China. 2560336019@ qq.com.
- Publication Type:Journal Article
- MeSH:
Chromosomes, Human, X;
genetics;
Comparative Genomic Hybridization;
Female;
Genetic Counseling;
Humans;
Karyotyping;
Pregnancy;
Prenatal Diagnosis;
Research;
trends
- From:
Chinese Journal of Medical Genetics
2020;37(5):584-587
- CountryChina
- Language:Chinese
-
Abstract:
With the application of BACs-on-Beads (BoBs) and array-comparative genome hybridization (aCGH) technologies in prenatal diagnosis, microdeletion/microduplications at Xp22.3 have been frequently detected. However, the relatively high prevalence and lack of knowledge of such disorders have brought difficulties for clinical genetic counseling. Here, recent progress of research on microdeletion/microduplications at Xp22.3, including epidemiology, pathogenesis, clinical manifestation, and prenatal diagnosis, is reviewed.
