Genetic features of a case with mosaic ring chromosome 4 and a review of the literature.
10.3760/cma.j.cn511374-20210424-00358
- Author:
Canling MA
1
;
Yingying WANG
;
Na ZHEN
;
Changxi SHAO
;
Daoling ZHANG
;
Yan JIANG
;
Yu DU
;
Yifang JIA
Author Information
1. Department of Laboratory Medicine, Tengzhou Maternal and Child Health Care Hospital, Tengzhou, Shandong 277599, China. jyf690629@163.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Pregnancy;
Female;
Ring Chromosomes;
In Situ Hybridization, Fluorescence;
Karyotyping;
Karyotype;
Mosaicism
- From:
Chinese Journal of Medical Genetics
2023;40(1):105-109
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis, clinical phenotype and pathogenesis for a child with mosaicism ring chromosome 4.
METHODS:Clinical data of the child was collected. Peripheral blood chromosomal karyotype G banding analysis, chromosomal microarray analysis (CMA), fluorescence in situ hybridization (FISH) were carried out for the child, in addition with a review of the literature.
RESULTS:The child was born full-term with low birth weight, facial dysmorphism, patent ductus arteriosus and ventricular septal defect. His karyotype was determined as mos46,XY,r(4)(p16.3q35.2)[259]/45,XY,-4[25]/47,XY,r(4)(p16.3q35.2), +r(4)(p16.3q35.2)[8]/46,XY,der(4)del(4)(p16.3)inv(4)(p16.3q31.1)[6]/46,XY,dic?r(4;4)(p16.3q35.2;p16.3q35.2)[4]/48,XY,r(4)(p16.3q35.2),+r(4)(p16.3q35.2)×2[3]/46,XY,r(4)(p1?q2?)[2]; CMA result was arr[GRCH37]4p16.3(68 345-2 981 614)×1; FISH result was 45,XY,-4[12]/45,XY,-4×2,+mar1.ish r1(4)(WHS-,D4Z1+)[1]/ 46,XY,-4,+mar1.ishr1(4)(WHS-,D4Z1+)[73]/46,XY,-4,+mar2.ishr2(4)(WHS-,D4Z1++)[1]/47,XY,-4,+mar1×2.ishr1(4) (WHS-, D4Z1+)×2[4]/46,XY,del(4)(p16.3).ish del(4)(p16.3)(WHS-,D4Z1+)[9].
CONCLUSION:In this case, the ring chromosome 4 as a de novo variant has produced a number of cell lines during embryonic development and given rise to mosaicism. The clinical phenotype of ring chromosome 4 is variable. The instability of the ring chromosome itself, presence of mosaicism, chromosome breakpoint and range of deletion and/or duplication may all affect the ultimate phenotype.
