PMID- 25324898
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20141017
LR  - 20211021
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 7
IP  - 1
DP  - 2014
TI  - The first patient with a pure 1p36 microtriplication associated with severe 
      clinical phenotypes.
PG  - 64
LID - 10.1186/s13039-014-0064-9 [doi]
LID - 64
AB  - BACKGROUND: Copy Number Variants (CNVs) is a new molecular frontier in clinical 
      genetics. CNVs in 1p36 are usually pathogenic and have attracted the attention of 
      cytogeneticists worldwide. None of 1p36 triplication has been reported thus far. 
      RESULTS: We present three patients with CNVs in 1p36. Among them one is the first 
      1p36 tetrasomy due to a pure microtriplication and the other two are 1p36 
      microdeletion. Traditional chromosome G-banding technique showed a normal 
      karyotype. Single nucleotide polymorphism (SNP) microarray analysis combined with 
      multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ 
      hybridization (FISH) were used to identify and confirm the chromosome 
      microdeletion/microtriplication. The facial dysmorphisms of the patient with 1p36 
      tetrasomy differed from those two patients with 1p36 monosomy. The expression 
      levels of B3GALT6, MIB2, PEX10 and PANK4 in the blood were determined, and 
      differential expressions were observed between the patients and controls. 
      CONCLUSIONS: Our study shows the first case of 1p36 tetrasomy due to a pure 
      microtriplication in a patient with severe intellectual disability and seizures. 
      The study provides a new resource for studying the mechanisms of 
      microtriplication formation, and provides an evidence that overexpression of the 
      specific genes might be related the specific phenotype of 1p36 microtriplication.
FAU - Xu, Fang
AU  - Xu F
AD  - Institute of Reproduction and Stem Cell Engineering, Central South University, 
      110# Xiangya Road, Changsha, Hunan 410078 PR China ; Reproductive and Genetic 
      Hospital of Citic-Xiangya, Changsha, Hunan 410078 PR China.
FAU - Zhang, Ya-Nan
AU  - Zhang YN
AD  - Institute of Reproduction and Stem Cell Engineering, Central South University, 
      110# Xiangya Road, Changsha, Hunan 410078 PR China.
FAU - Cheng, De-Hua
AU  - Cheng DH
AD  - Institute of Reproduction and Stem Cell Engineering, Central South University, 
      110# Xiangya Road, Changsha, Hunan 410078 PR China ; Reproductive and Genetic 
      Hospital of Citic-Xiangya, Changsha, Hunan 410078 PR China.
FAU - Tan, Ke
AU  - Tan K
AD  - Institute of Reproduction and Stem Cell Engineering, Central South University, 
      110# Xiangya Road, Changsha, Hunan 410078 PR China ; National Engineering and 
      Research Center of Human Stem Cell, Changsha, 410078 PR China.
FAU - Zhong, Chang-Gao
AU  - Zhong CG
AD  - Institute of Reproduction and Stem Cell Engineering, Central South University, 
      110# Xiangya Road, Changsha, Hunan 410078 PR China ; Reproductive and Genetic 
      Hospital of Citic-Xiangya, Changsha, Hunan 410078 PR China.
FAU - Lu, Guang-Xiu
AU  - Lu GX
AD  - Institute of Reproduction and Stem Cell Engineering, Central South University, 
      110# Xiangya Road, Changsha, Hunan 410078 PR China ; Reproductive and Genetic 
      Hospital of Citic-Xiangya, Changsha, Hunan 410078 PR China ; National Engineering 
      and Research Center of Human Stem Cell, Changsha, 410078 PR China.
FAU - Lin, Ge
AU  - Lin G
AD  - Institute of Reproduction and Stem Cell Engineering, Central South University, 
      110# Xiangya Road, Changsha, Hunan 410078 PR China ; Reproductive and Genetic 
      Hospital of Citic-Xiangya, Changsha, Hunan 410078 PR China ; National Engineering 
      and Research Center of Human Stem Cell, Changsha, 410078 PR China.
FAU - Tan, Yue-Qiu
AU  - Tan YQ
AD  - Institute of Reproduction and Stem Cell Engineering, Central South University, 
      110# Xiangya Road, Changsha, Hunan 410078 PR China ; Reproductive and Genetic 
      Hospital of Citic-Xiangya, Changsha, Hunan 410078 PR China.
LA  - eng
PT  - Case Reports
DEP - 20141003
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC4198684
OTO - NOTNLM
OT  - 1p36 microdeletion
OT  - 1p36 microtriplication
OT  - Copy number variations
OT  - Single nucleotide polymorphism microarray
EDAT- 2014/10/18 06:00
MHDA- 2014/10/18 06:01
PMCR- 2014/10/03
CRDT- 2014/10/18 06:00
PHST- 2014/07/31 00:00 [received]
PHST- 2014/09/01 00:00 [accepted]
PHST- 2014/10/18 06:00 [entrez]
PHST- 2014/10/18 06:00 [pubmed]
PHST- 2014/10/18 06:01 [medline]
PHST- 2014/10/03 00:00 [pmc-release]
AID - 64 [pii]
AID - 10.1186/s13039-014-0064-9 [doi]
PST - epublish
SO  - Mol Cytogenet. 2014 Oct 3;7(1):64. doi: 10.1186/s13039-014-0064-9. eCollection 
      2014.