title: [Clinical and molecular cytogenetic analysis of a family with mental retardation caused by an unbalanced translocation involving chromosomes 3 and 22].
abstract: OBJECTIVE
  To explore the genetic cause of a Chinese boy with unexplained mental retardation, and analyze the pattern of inheritance for his family.
  
  
  METHODS
  Routine karyotyping, chromosomal microarray analysis (CMA), and fluorescence in situ hybridization (FISH) were used to detect chromosome abnormalities in the patient and his families.
  
  
  RESULTS
  Chromosome 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.
  
  
  CONCLUSIONS
  The 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.
authors.affiliation: Jinan Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com; gaizhongtao@sina.com.
authors.forename: Kaihui
authors.initials: K
authors.lastname: Zhang
authors.forename: Rui
authors.initials: R
authors.lastname: Dong
authors.forename: Yan
authors.initials: Y
authors.lastname: Huang
authors.forename: Yali
authors.initials: Y
authors.lastname: Yang
authors.forename: Ying
authors.initials: Y
authors.lastname: Wang
authors.forename: Haiyan
authors.initials: H
authors.lastname: Zhang
authors.forename: Yufeng
authors.initials: Y
authors.lastname: Zhang
authors.forename: Yi
authors.initials: Y
authors.lastname: Liu
authors.forename: Zhongtao
authors.initials: Z
authors.lastname: Gai
mesh_terms: D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D020732:Cytogenetic Analysis / Q000379:methods*; D005192:Family Health; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic