Molecular cytogenetic diagnosis of a case with ring chromosome 18 syndrome.
10.3760/cma.j.issn.1003-9406.2019.10.015
- Author:
Yuqiang LYU
1
;
Xingcui WANG
;
Kaihui ZHANG
;
Min GAO
;
Jian MA
;
Xuemei LIU
;
Zhongtao GAI
;
Yi LIU
Author Information
1. Jinan Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com.
- Publication Type:Journal Article
- MeSH:
Child;
Chromosome Aberrations;
Chromosomes, Human, Pair 18;
genetics;
Cytogenetics;
Developmental Disabilities;
genetics;
Humans;
Karyotyping;
Ring Chromosomes;
Syndactyly;
genetics
- 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.
