Genetic diagnosis and analysis for two cases of ring chromosome 22.
- Author:
Ying PENG
1
;
Guizhi TANG
;
Rui ZHANG
;
Yanghui ZHANG
;
Yan XIA
;
Ruiyu MA
;
Ruolan GUO
;
Lingqian WU
Author Information
- Publication Type:Case Reports
- MeSH: Child, Preschool; Chromosome Banding; Chromosomes, Human, Pair 22; genetics; Genetic Testing; Humans; Male; Nerve Tissue Proteins; genetics; Oligonucleotide Array Sequence Analysis; Polymorphism, Single Nucleotide; Ring Chromosomes
- From: Chinese Journal of Medical Genetics 2016;33(4):494-497
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo confirm the genetic diagnosis of two patients with ring chromosome 22 syndrome and investigate the mechanism underlying the formation of r(22) and potential genetic causes for the clinical phenotypes.
METHODSCytogenetic and molecular analyses using standard G-banding, fluorescence in situ hybridization and single nucleotide polymorphism array (SNP array) were performed.
RESULTSFor case 1, the karyotype was 46,XY,r(22)(p11q13). SNP array has identified a 7.0 Mb heterozygous deletion at 22q13.2q13.33. For case 2, the karyotype was 46,XY,r(22)(p11q13)[84]/45,XY,-22[6]; SNP array has detected a heterozygous microdeletion of 1.6 Mb at 22q13.33.
CONCLUSIONWith combined application of genetic testing, 2 cases of r(22) syndrome were diagnosed, which has improved the understanding of the genotype-phenotype correlation of r(22).
