PMID- 27577224
OWN - NLM
STAT- MEDLINE
DCOM- 20170104
LR  - 20170105
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 33
IP  - 5
DP  - 2016 Oct
TI  - [Genetic analysis of a child with XYY syndrome mainly featuring mental 
      retardation].
PG  - 686-9
LID - 10.3760/cma.j.issn.1003-9406.2016.05.024 [doi]
AB  - OBJECTIVE: To explore the genetic cause for a boy featuring mainly with mental 
      retardation. METHODS: G-banding karyotyping and fluorescence in situ 
      hybridization (FISH) were carried out for the child and his parents. The child 
      was also analyzed with chromosome microarray (CMA). Suspected microdeletion was 
      validated with quantitative PCR. RESULTS: The proband was found to have a 47,XYY 
      karyotype by both chromosome and FISH analyses, while both of his parents had a 
      normal karyotype. CMA suggested that the proband had one copy of X chromosome and 
      two copies of Y chromosome. In addition, CMA has also detected deletion of the 
      KYNU gene (mapped at 2q22.2), which could be pathogenic. The result was confirmed 
      by qPCR. CONCLUSION: For its high resolution, CMA can be used to identify 
      potential microdeletion/duplications among children with chromosome aneuploidy 
      and unusual phenotypes.
FAU - Liu, Yi
AU  - Liu Y
AD  - Pediatric Research Institute, Institute of Pediatric Health Care, Qilu Children's 
      Hospital of Shandong University, Jinan, Shandong 250022, China. Email: 
      gaizhongtao@sina.com.
FAU - Dong, Rui
AU  - Dong R
FAU - Zhang, Kaihui
AU  - Zhang K
FAU - Wang, Ying
AU  - Wang Y
FAU - Zhang, Haiyan
AU  - Zhang H
FAU - Zhang, Yanqing
AU  - Zhang Y
FAU - Zhao, Dongmei
AU  - Zhao D
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
RN  - 47, XYY syndrome
SB  - IM
MH  - Adult
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*genetics
MH  - Karyotyping
MH  - Male
MH  - Oligonucleotide Array Sequence Analysis/methods
MH  - Polymorphism, Single Nucleotide
MH  - Sex Chromosome Disorders/diagnosis/*genetics
MH  - XYY Karyotype/diagnosis/*genetics
EDAT- 2016/09/01 06:00
MHDA- 2017/01/05 06:00
CRDT- 2016/09/01 06:00
PHST- 2016/09/01 06:00 [entrez]
PHST- 2016/09/01 06:00 [pubmed]
PHST- 2017/01/05 06:00 [medline]
AID - 940633145 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2016.05.024 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Oct;33(5):686-9. doi: 
      10.3760/cma.j.issn.1003-9406.2016.05.024.