Genetic study of a child carrying a maternally derived unbalanced 46,Y,der(X)t(X;Y)(p22;q11) chromosomal translocation.
10.3760/cma.j.cn511374-20200321-00188
- Author:
Ting YIN
1
;
Yongan WANG
;
Zhiwei WANG
;
Rong ZHANG
;
Leilei WANG
Author Information
1. Lianyungang Maternal and Child Health Care Hospital, Lianyungang, Jiangsu 222000, China. wangleileiok@qq.com.
- Publication Type:Journal Article
- MeSH:
Child;
Chromosome Banding;
Chromosomes, Human, X/genetics*;
Female;
Humans;
In Situ Hybridization, Fluorescence;
Karyotyping;
Male;
Translocation, Genetic
- From:
Chinese Journal of Medical Genetics
2021;38(4):376-379
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a child featuring short stature, saddle nose, cryptorchidism and mental retardation.
METHODS:The child and his parents were subjected to G-banded karyotyping and chromosomal microarray analysis (CMA).
RESULTS:The child was found to have a 46,Y,der(X)t(X;Y)(p22;q11)mat karyotype. CMA has revealed a 8.3 Mb deletion at Xp22.33p22.31 and a 43.3 Mb duplication at Yq11.221qter. His mother had a karyotype of 46,X,der(X)t(X;Y)(p22;q11). His father had a normal karyotype.
CONCLUSION:The child has carried an unbalanced translocation der(X)t(X;Y) (p22;q11) derived from his mother. His clinical phenotype has correlated with the size and position of X chromosome deletion. Compared with the females, abnormal phenotypes such as mental retardation and growth retardation of male carriers are more severe.
