PMID- 28186589
OWN - NLM
STAT- MEDLINE
DCOM- 20170629
LR  - 20170629
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 34
IP  - 1
DP  - 2017 Feb 10
TI  - [Clinical and molecular cytogenetic analysis of a family with mental retardation 
      caused by an unbalanced translocation involving chromosomes 3 and 22].
PG  - 30-34
LID - 10.3760/cma.j.issn.1003-9406.2017.01.007 [doi]
AB  - 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. CONCLUSION: 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.
FAU - Zhang, Kaihui
AU  - Zhang K
AD  - Jinan Pediatric Research Institute, Qilu Children's Hospital of Shandong 
      University, Jinan, Shandong 250022, China. liuyi-ly@126.com; 
      gaizhongtao@sina.com.
FAU - Dong, Rui
AU  - Dong R
FAU - Huang, Yan
AU  - Huang Y
FAU - Yang, Yali
AU  - Yang Y
FAU - Wang, Ying
AU  - Wang Y
FAU - Zhang, Haiyan
AU  - Zhang H
FAU - Zhang, Yufeng
AU  - Zhang Y
FAU - Liu, Yi
AU  - Liu Y
FAU - Gai, Zhongtao
AU  - Gai Z
LA  - chi
PT  - Case Reports
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
SB  - IM
MH  - Chromosome Deletion
MH  - Chromosome Duplication
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - Chromosomes, Human, Pair 3/*genetics
MH  - Cytogenetic Analysis/*methods
MH  - Family Health
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Intellectual Disability/*genetics
MH  - Karyotyping
MH  - Male
MH  - Pedigree
MH  - *Translocation, Genetic
EDAT- 2017/02/12 06:00
MHDA- 2017/07/01 06:00
CRDT- 2017/02/11 06:00
PHST- 2017/02/11 06:00 [entrez]
PHST- 2017/02/12 06:00 [pubmed]
PHST- 2017/07/01 06:00 [medline]
AID - 940634007 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2017.01.007 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):30-34. doi: 
      10.3760/cma.j.issn.1003-9406.2017.01.007.