Analysis of clinical and genetic characteristics of a child with ring chromosome 4 syndrome.

VernacularTitle:4号环状染色体嵌合体综合征的临床特征及遗传学分析
Author: Yuqiang LYU ¹ ; Fengling SONG ; Kaihui ZHANG ; Min GAO ; Jian MA ; Dong WANG ; Ya WAN ; Yi LIU ; Zhongtao GAI
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
From: Chinese Journal of Medical Genetics 2020;37(8):843-846
CountryChina
Language:Chinese
Abstract: OBJECTIVE:To explore the genetic basis for a child featuring short stature.
METHODS:G-banded karyotyping, chromosomal microarray analysis (CMA) and high-throughput sequencing were carried out on peripheral blood sample from the child.
RESULTS:The karyotype of the child was ascertained as 45,XY,-4[3]/46,XY,r(4)(p16q35)[84]/47,XY,-4,r(4)(p16q25)*2[7]/48,XY,-4,r(4)(p16q35)*3[1]/46,XY,dic r(4;4)(p16q35;p16q35)[2]/46,XY,add(4)(p16)[3]. A 647 kb deletion at 4p16.3 was identified by CMA, which encompassed 6 OMIM genes including ZNF141, PIGG, PDE6B, ATP5I, PCGF3 and MYL5. High-throughput sequencing has identified no pathogenic/likely pathogenic variants consistent with the clinical symptoms.
CONCLUSION:A rare ring chromosome 4 syndrome was identified by combined chromosomal karyotyping, CMA and high-throughput sequencing. Conventional cytogenetic analysis and genetic testing in combine have enabled the diagnosis in this case.