Prenatal diagnosis of a fetus with cleft lip and palate by using chromosomal microarray analysis.
10.3760/cma.j.issn.1003-9406.2020.04.027
- VernacularTitle:一例先天性唇腭裂胎儿的产前诊断
- Author:
Chao HUANG
1
;
Xiaoyan SONG
;
Qin ZHANG
;
Minjuan LIU
;
Jun MAO
;
Jingjing XIANG
;
Yinghua LIU
;
Hong LI
;
Ting WANG
Author Information
1. Central Laboratory, the Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Suzhou, Jiangsu 215002, China. biowt@163.com.
- Publication Type:Case Reports
- MeSH:
Chromosome Deletion;
Chromosomes, Human, X;
genetics;
Cleft Lip;
diagnosis;
genetics;
Cleft Palate;
diagnosis;
genetics;
DNA Copy Number Variations;
Female;
Fetus;
Histone Demethylases;
Humans;
Microarray Analysis;
methods;
Pregnancy;
Prenatal Diagnosis;
Transcription Factors
- From:
Chinese Journal of Medical Genetics
2020;37(4):471-474
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a fetus with cleft lip and palate.
METHODS:Copy number variations (CNVs) in the fetus and his parents were detected with chromosomal microarray analysis (CMA).
RESULTS:As revealed by the CMA assay, the fetus has carried a 228 kb deletion in Xp11.22 region and a 721 kb duplication in 9p21.1. Both CNVs were inherited from the parents. The CNV in Xp11.22 was predicted to be pathogenic by involving the PHF8 gene, whilst the CNV in 9p21.1 was predicted to be benign.
CONCLUSION:Deletion of the Xp11.22 region probably underlies the cleft lip and palate in this fetus.
