Phenotypic and genetic analysis of a boy with a 10p15.3 deletion and partial trisomy 18p syndrome.
10.3760/cma.j.issn.1003-9406.2020.07.020
- VernacularTitle:一例10p15.3缺失及18短臂部分三体患儿的临床表型与遗传学分析
- Author:
Bo ZHANG
1
;
Jinghui KONG
;
Shiyue MEI
;
Dongxiao LI
;
Yinsen SONG
Author Information
1. Children's Hospital Affiliated of Zhengzhou University, Henan Provincial Children's Hospital, Zhengzhou Children's Hospital, Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Zhengzhou, Henan 450003, China. df13607670608@163.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(7):785-788
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To delineate the nature and origin of chromosomal aberration in a girl with mental retardation.
METHODS:Genomic DNA was analyzed by using single nucleotide polymorphism-based array (SNP array). The proband and her parents were subjected to routine G-banded chromosomal karyotyping analysis.
RESULTS:SNP array has identified a 1.2 Mb microdeletion at 10p15.3 and a duplication at 18p11.21-pter in the proband. The patient was also found to harbor a structural aberration involving 10p. The karyotype of her father was 46,XY,t(10;18)(p15;p11.2), while her mother was found to be normal.
CONCLUSION:The structural aberration of 10p carried by the patient has derived from her father whom has carried a balanced translocation of t(10;18). Her karyotype was finally determined as 46,XX,der(10)t(10;18)(p15;p11.2)pat. The abnormal phenotype of the patient can probably be attributed to the presence of 10p15.3 microdeletion and 18p11.21-pter duplication.
