Molecular cytogenetic diagnosis of a case with ring chromosome 18 syndrome
10.3760/cma.j.issn.1003-9406.2019.10.015
- VernacularTitle: 一例18号环状染色体嵌合体综合征的综合诊断
- Author:
Yuqiang LYU
1
;
Xingcui WANG
2
;
Kaihui ZHANG
1
;
Min GAO
1
;
Jian MA
1
;
Xuemei LIU
2
;
Zhongtao GAI
1
;
Yi LIU
1
Author Information
1. Jinan Pediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
2. Department of Nephrology and Rheumatology, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
- Publication Type:Clinical Trail
- Keywords:
Ring chromosome 18;
Chromosomal microarray analysis;
Karyotyping;
Deletion
- From:
Chinese Journal of Medical Genetics
2019;36(10):1010-1014
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic basis for a child with developmental delay and congenital syndactyly.
Methods:G-banding chromosomal karyotyping and chromosomal microarray analysis (CMA) were performed on peripheral blood sample from the child.
Results:The child was ascertained as 46, XY, r(18)[52]/45, XY, ? 18[3]. A 18q21.32-q23 deletion was identified by CMA with a size of 19.85 Mb, which has encompassed 99 genes including CTDP1, TXNL4A, TSHZ1, PIGN, RTTN, TNFRSF11A, KDSR and CYB5A.
Conclusion:Clinical phenotype of the patient with ring chromosome 18 is associated with the size of the euchromatin loss and involved genes. As a useful complement to conventional karyotyping, CMA has provided an powerful tool for delineating complex chromosomal aberrations.
