Clinical phenotype and genetic analysis of three pedigrees with 17q12 microdeletion syndrome.
10.3760/cma.j.issn.1003-9406.2020.04.008
- Author:
Qinghua WU
1
;
Saisai YANG
;
Can WANG
;
Huirong SHI
;
Xiangdong KONG
;
Shumin REN
;
Zhihui JIAO
;
Ning LIU
;
Panlai SHI
Author Information
1. Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. qh_wu77@163.com.
- Publication Type:Case Reports
- MeSH:
Chromosome Deletion;
Chromosomes, Human, Pair 17;
genetics;
DNA Copy Number Variations;
Fetus;
Genetic Testing;
Hepatocyte Nuclear Factor 1-beta;
genetics;
Humans;
Pedigree;
Phenotype
- From:
Chinese Journal of Medical Genetics
2020;37(4):397-400
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic etiology of three pedigrees with a gestational history of fetal renal anomalies.
METHODS:Peripheral venous blood or skin samples were derived from the probands of the three pedigrees. Copy number variation sequencing (CNV-seq) was applied to detect alterations of genome CNVs.
RESULTS:The patient from pedigree 1 and the fetuses from pedigrees 2 and 3 all carried a heterozygous 17q12 deletion, with the size ranging from 1.4 Mb to 1.48 Mb encompassing the HNF1B gene.
CONCLUSION:The diagnosis of 17q12 microdeletion may be difficult during fetal period for its variable phenotypes. Alterations of chromosomal copy numbers need to be excluded in such patients.
