PMID- 25450604
OWN - NLM
STAT- MEDLINE
DCOM- 20151130
LR  - 20201209
IS  - 1878-0849 (Electronic)
IS  - 1769-7212 (Linking)
VI  - 58
IP  - 2
DP  - 2015 Feb
TI  - Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with 
      intellectual disability.
PG  - 116-21
LID - S1769-7212(14)00191-8 [pii]
LID - 10.1016/j.ejmg.2014.10.002 [doi]
AB  - Whole-genome microarray analysis is proven to be useful in the identification of 
      submicroscopic copy number imbalances in families with intellectual disabilities. 
      The first case of Xq25 duplication was identified using genome-wide array 
      comparative genomic hybridization (array-CGH) in a 24-year-old patient with a 
      syndromic intellectual disability. We report a 4-year-old boy with a de novo 
      591 kb duplication at Xq25. The duplication was first detected by a CytoScan HD 
      array platform (Affymetrix, USA) and was confirmed by real-time quantitative PCR 
      (qPCR) of the STAG2 gene, and by fluorescence in situ hybridization (FISH). The 
      patient had clinical features partially consistent with published cases, 
      including an intellectual disability and speech delay. The identification of this 
      additional patient and a detailed analysis of duplications identified in other 
      patient cohorts and absent in normal individuals support the existence of a rare 
      pathological microduplication at Xq25 that encompasses STAG2.
CI  - Copyright (c) 2014 Elsevier Masson SAS. All rights reserved.
FAU - Yingjun, Xie
AU  - Yingjun X
AD  - Department of Prenatal Diagnosis, The First Affiliated Hospital of Sun Yat-sen 
      University, Guangzhou 510080, China; Key Laboratory for Major Obstetric Diseases 
      of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong 
      Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical 
      University, 510080, China.
FAU - Wen, Tang
AU  - Wen T
AD  - Department of Pediatric Intensive Care Unit, The First Affiliated Hospital, Sun 
      Yat-sen University, Guangzhou 510080, China. Electronic address: 
      tangwenr@21cn.com.
FAU - Yujian, Liang
AU  - Yujian L
AD  - Department of Pediatric Intensive Care Unit, The First Affiliated Hospital, Sun 
      Yat-sen University, Guangzhou 510080, China.
FAU - Lingling, Xu
AU  - Lingling X
AD  - Department of Pediatric Intensive Care Unit, The First Affiliated Hospital, Sun 
      Yat-sen University, Guangzhou 510080, China.
FAU - Huimin, Huang
AU  - Huimin H
AD  - Department of Pediatric Intensive Care Unit, The First Affiliated Hospital, Sun 
      Yat-sen University, Guangzhou 510080, China.
FAU - Qun, Fang
AU  - Qun F
AD  - Department of Prenatal Diagnosis, The First Affiliated Hospital of Sun Yat-sen 
      University, Guangzhou 510080, China.
FAU - Junhong, Chen
AU  - Junhong C
AD  - Department of Prenatal Diagnosis, The First Affiliated Hospital of Sun Yat-sen 
      University, Guangzhou 510080, China.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20141024
PL  - Netherlands
TA  - Eur J Med Genet
JT  - European journal of medical genetics
JID - 101247089
RN  - 0 (Antigens, Nuclear)
RN  - 0 (Cell Cycle Proteins)
RN  - 0 (STAG2 protein, human)
RN  - X chromosome, trisomy Xq25
SB  - IM
MH  - Antigens, Nuclear/*genetics
MH  - Cell Cycle Proteins
MH  - Child, Preschool
MH  - Chromosomes, Human, X/genetics
MH  - Humans
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - Sex Chromosome Aberrations
MH  - Trisomy/*genetics
OTO - NOTNLM
OT  - Genome-wide array analysis
OT  - Intellectual disability
OT  - Microduplication
OT  - STAG2
OT  - XIAP
EDAT- 2014/12/03 06:00
MHDA- 2015/12/15 06:00
CRDT- 2014/12/03 06:00
PHST- 2014/05/09 00:00 [received]
PHST- 2014/10/13 00:00 [accepted]
PHST- 2014/12/03 06:00 [entrez]
PHST- 2014/12/03 06:00 [pubmed]
PHST- 2015/12/15 06:00 [medline]
AID - S1769-7212(14)00191-8 [pii]
AID - 10.1016/j.ejmg.2014.10.002 [doi]
PST - ppublish
SO  - Eur J Med Genet. 2015 Feb;58(2):116-21. doi: 10.1016/j.ejmg.2014.10.002. Epub 
      2014 Oct 24.