Genetic analysis of three children with disorders of sex development caused by structural rearrangements of Y chromosome.
10.3760/cma.j.cn511374-20190725-00373
- VernacularTitle:三例Y染色体重排致性发育异常患儿的遗传学分析
- Author:
Hongying WANG
1
,
2
;
Linqi CHEN
;
Yuanyuan CHEN
;
Yiping SHEN
;
Li LI
;
Xuejun SHAO
;
Haibo LI
Author Information
1. Department of Clinical Laboratory, Wujiang District Children's Hospital, Suzhou, Jiangsu 215234, China. why923811@sina.com
2. lihaibo-775@163.com.
- Publication Type:Journal Article
- MeSH:
Child;
Chromosome Banding;
Chromosomes, Human, Y/genetics*;
DNA Copy Number Variations;
Humans;
In Situ Hybridization, Fluorescence;
Male;
Polymorphism, Single Nucleotide;
Sex Chromosome Aberrations;
Sex Chromosome Disorders of Sex Development/genetics*
- From:
Chinese Journal of Medical Genetics
2020;37(11):1226-1232
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis of three children with disorders of sex development (DSD) in association with rare Y chromosome rearrangements.
METHODS:The three children, who all featured short stature and DSD, were subjected to G banding chromosomal karyotyping, multiplex PCR for Y chromosomal microdeletion, sequencing of the whole SRY gene, SNP-array analysis for genomic copy number variations, and fluorescence in situ hybridization (FISH).
RESULTS:The combined analysis revealed chromosomal abnormalities in all of the three children, including 46,X,t(X;Y)(p22.3;q11.2) in case 1, mos 45,X,der(7)pus dic(Y:7)(p11.3p22)del(7)(p21.2p21.3) del(7)(p12.3p14.3) [56]/45,X [44] in case 2, and mos 45,X [50]/46,X,idic(Y)(q11.22) [42]/47,X,idem×2 [4]/47,XYY [2] in case 3.
CONCLUSION:Combined use of genetic techniques can delineate complex rearrangements involving Y chromosome in patients featuring short stature and DSD. Above findings have enabled molecular diagnosis and genetic counseling for the patients.
