Genetic analysis of an infant with duplication of 22q12.1-q13.3.
10.3760/cma.j.issn.1003-9406.2020.05.015
- VernacularTitle:一例22q12.1-q13.3重复患儿的遗传学分析
- Author:
Rui LI
1
,
2
;
Ailing WANG
;
Jianhong WANG
;
Panlai SHI
;
Yufei MA
;
Xiangdong KONG
Author Information
1. Genetic and Prenatal Screening Center, Maternal and Child Health Care Hospital of Jiaozuo, Jiaozuo, Henan 454000, China. kongxd@
2. net.
- Publication Type:Case Reports
- MeSH:
Abnormalities, Multiple;
genetics;
Child;
Chromosome Duplication;
Chromosomes, Human, Pair 22;
genetics;
Cleft Palate;
genetics;
DNA Copy Number Variations;
Genetic Testing;
Heart Defects, Congenital;
genetics;
Humans;
Infant;
Karyotyping
- From:
Chinese Journal of Medical Genetics
2020;37(5):555-558
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for an infant with multiple malformations including congenital heart disease and cleft palate.
METHODS:The child and his parents were subjected to conventional chromosomal karyotyping and low-coverage massively parallel copy number variation sequencing (CNV-seq) analysis.
RESULTS:The infant was found to have a 46,X,add(Y)(q11.23) karyotype, and his CNV-seq result was seq [hg19] 22q12.1q13.3 (29 520 001-51 180 000)× 3. His parents were found to be normal by both methods.
CONCLUSION:The additional chromosomal material found on Yq, verified as duplication of 22q12.1-q13.3, may account for the abnormal phenotype in this infant. CNV-seq has provided a useful complement for the diagnosis and more accurate information for genetic counseling.
