Clinical characterization and genetic analysis of a newborn with chromosome 8q21.11 deletion syndrome.
10.3760/cma.j.cn511374-20191224-00657
- VernacularTitle:一例8q21.11缺失综合征患儿的临床表型与遗传学诊断
- Author:
Suli LI
1
;
Weiqing WU
;
Jiansheng XIE
;
Haifei LI
Author Information
1. Medical Genetics Center, Shenzhen Maternal and Child Health Care Hospital Affiliated to Southern Medical University, Shenzhen, Guangdong 518017, China. lhfei96142004@163.com.
- Publication Type:Journal Article
- MeSH:
Chromosome Banding;
Chromosomes, Human, Pair 8/genetics*;
DNA Copy Number Variations;
Female;
Genetic Testing;
Homeodomain Proteins/genetics*;
Humans;
Infant, Newborn;
Karyotyping;
Monosomy/genetics*;
Peroxisomal Biogenesis Factor 2/genetics*;
Polymorphism, Single Nucleotide;
Transcription Factors/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(2):145-149
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic etiology for a newborn with corneal opacity.
METHODS:The neonate and her parents were subjected to routine G-banding chromosomal karyotyping analysis. Copy number variation (CNV) was analyzed with low-coverage whole-genome sequencing (WGS) and single nucleotide polymorphism microarray (SNP array).
RESULTS:No karyotypic abnormality was found in the newborn and her parents. Low-coverage WGS has identified a de novo 5.5 Mb microdeletion at chromosome 8q21.11-q21.13 in the neonate, which encompassed the ZFHX4 and PEX2 genes. The result was confirmed by SNP array-based CNV analysis.
CONCLUSION:The newborn was diagnosed with chromosome 8q21.11 deletion syndrome. ZFHX4 may be one of the key genes underlying this syndrome.
