Clinical and molecular cytogenetic analysis of a family with mental retardation caused by an unbalanced translocation involving chromosomes 3 and 22.
- Author:
Kaihui ZHANG
1
,
2
,
3
;
Rui DONG
;
Yan HUANG
;
Yali YANG
;
Ying WANG
;
Haiyan ZHANG
;
Yufeng ZHANG
;
Yi LIU
;
Zhongtao GAI
Author Information
- Publication Type:Case Reports
- MeSH: Chromosome Deletion; Chromosome Duplication; Chromosomes, Human, Pair 22; genetics; Chromosomes, Human, Pair 3; genetics; Cytogenetic Analysis; methods; Family Health; Female; Humans; In Situ Hybridization, Fluorescence; Infant; Intellectual Disability; genetics; Karyotyping; Male; Pedigree; Translocation, Genetic
- From: Chinese Journal of Medical Genetics 2017;34(1):30-34
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the genetic cause of a Chinese boy with unexplained mental retardation, and analyze the pattern of inheritance for his family.
METHODSRoutine karyotyping, chromosomal microarray analysis (CMA), and fluorescence in situ hybridization (FISH) were used to detect chromosome abnormalities in the patient and his families.
RESULTSChromosome analysis suggested that the proband and 7 affected individuals had an identical karyotype 46,XN,der(22)t(3;22)(q28;q13)pat, while his father and 5 other relatives carried a same karyotype of 46,XN,t(3;22)(q28;q13). His mother and other family members were normal. CMA analysis confirmed that the patient had a 9.0 Mb duplication at 3q28q29, in addition with a 1.7 Mb deletion at 22q13.3. Above results were confirmed by FISH.
CONCLUSIONThe abnormal phenotypes of the proband and his family members from five generations have conformed to those of 3q duplication and 22q13.3 deletion caused by unbalanced translocation involving chromosomes 3q and 22q. The presence of multiple patients in this family may be attributed to abnormal gametes produced by parental balanced translocations involving 3q and 22q.
