Clinical phenotype and genetic analysis of a child with 3p26.3p25.3 deletion.
10.3760/cma.j.cn511393-20220412-00247
- Author:
Jiamin SHI
1
;
Shangqin CHEN
;
Aihui LU
;
Yaqin LIANG
;
Qiu WANG
;
Chaosheng LU
;
Dan WANG
Author Information
1. Department of Pediatrics, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325000, China. wd2014@126.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Male;
Chromosome Deletion;
DNA Copy Number Variations;
Quality of Life;
Abnormalities, Multiple/genetics*;
Phenotype
- From:
Chinese Journal of Medical Genetics
2023;40(2):234-237
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a child with facial dysmorphism and multiple malformations.
METHODS:The child, born at 34+6 weeks' gestation due to premature rupture of amniotic membrane, dichorionic diamniotic twinning and gestational diabetes, was subjected to chromosomal karyotyping analysis and copy number variations sequencing (CNV-seq).
RESULTS:The child was found to have facial dysmorphism, hypospadia, cryptorchidism and hypotonia. He was found to have a 46,XY,del(3)(p26) karyotype in addition with a 9.80 Mb deletion (chr3: 60 000-9 860 000) encompassing 33 protein coding genes.
CONCLUSION:The 3p26.3p25.3 deletion probably underlay the multiple malformations in this child. Continuous follow-up is required to improve his quality of life.
