PMID- 24129071
OWN - NLM
STAT- MEDLINE
DCOM- 20140121
LR  - 20131111
IS  - 1879-0038 (Electronic)
IS  - 0378-1119 (Linking)
VI  - 533
IP  - 1
DP  - 2014 Jan 1
TI  - De novo MECP2 duplication derived from paternal germ line result in dysmorphism 
      and developmental delay.
PG  - 78-85
LID - S0378-1119(13)01355-3 [pii]
LID - 10.1016/j.gene.2013.10.001 [doi]
AB  - Xq28 duplications encompassing the methyl CpG binding protein 2 (MECP2) in males 
      exhibit a distinct phenotype, including developmental delay, facial dysmorphism, 
      muscular hypotonia, intellectual disability, poor or absent speech, recurrent 
      infections and early death. The vast majority of affected males inherit the MECP2 
      duplication from their usually asymptomatic carrier mothers. Only a few cases 
      with Xq28 duplication originating from de novo unbalanced X/Y translocation have 
      been reported and the paternal origin of the aberration has only been validated 
      in three males in the related literature. Here we present a karyotypically normal 
      male with features characteristic of the MECP2 duplication syndrome. The 
      genome-wide SNP genotyping shows a de novo 2.26-Mb duplication from Xq28 to the 
      terminus. The genotypes of the SNPs within the duplicated region indicated a 
      paternal origin. Furthermore, the results of fluorescence in situ hybridization 
      (FISH) indicated a novel Xq:Yp translocation, characterized as 
      der(Y)t(Y;X)(p11.32;q28), which suggests an aberrant that occurred during 
      spermatogenesis. The phenotype is compared to the previously reported cases with 
      Xq28 duplication originated from an unbalanced X/Y translocation, and there was 
      no specific part of the phenotype that could be contributed to the origin of 
      parental imbalances. This report further highlights the capacity of 
      high-molecular cytogenetic methods, such as SNP array and FISH, in the 
      identification of submicroscopic rearrangement, structural configuration and 
      parental origin of aberrant while in the evaluation of children with idiopathic 
      developmental delay and intellectual disability.
CI  - (c) 2013.
FAU - Lin, Dar-Shong
AU  - Lin DS
AD  - Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Department of 
      Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of 
      Chemical Engineering and Biotechnology, National Taipei University of Technology, 
      Taipei, Taiwan; Mackay Junior College of Medicine, Nursing, and Management, 
      Taipei, Taiwan.
FAU - Chuang, Tzu-Po
AU  - Chuang TP
FAU - Chiang, Ming-Fu
AU  - Chiang MF
FAU - Ho, Che-Sheng
AU  - Ho CS
FAU - Hsiao, Chung-Der
AU  - Hsiao CD
FAU - Huang, Yu-Wen
AU  - Huang YW
FAU - Wu, Tsu-Yen
AU  - Wu TY
FAU - Wu, Jer-Yuarn
AU  - Wu JY
FAU - Chen, Yuan-Tsong
AU  - Chen YT
FAU - Chen, Tsai-Chuan
AU  - Chen TC
FAU - Li, Ling-Hui
AU  - Li LH
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20131012
PL  - Netherlands
TA  - Gene
JT  - Gene
JID - 7706761
RN  - 0 (MECP2 protein, human)
RN  - 0 (Methyl-CpG-Binding Protein 2)
SB  - IM
MH  - Child
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, X
MH  - Chromosomes, Human, Y
MH  - Developmental Disabilities/*genetics
MH  - *Genomic Imprinting
MH  - *Germ Cells
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Methyl-CpG-Binding Protein 2/*genetics
MH  - Polymorphism, Single Nucleotide
MH  - Real-Time Polymerase Chain Reaction
OTO - NOTNLM
OT  - CGH
OT  - CNVs
OT  - Disomy
OT  - FISH
OT  - FoSTeS
OT  - Fork Stalling and Template Switching
OT  - IFN-alpha
OT  - MECP2
OT  - MECP2 duplication
OT  - SNP
OT  - SNP array
OT  - Translocation
OT  - Xq28
OT  - comparative genome hybridization
OT  - copy number variations
OT  - fluorescence in situ hybridization
OT  - interferon alpha
OT  - methyl CpG binding protein 2
OT  - single-nucleotide polymorphism
EDAT- 2013/10/17 06:00
MHDA- 2014/01/22 06:00
CRDT- 2013/10/17 06:00
PHST- 2013/08/26 00:00 [received]
PHST- 2013/09/26 00:00 [revised]
PHST- 2013/10/01 00:00 [accepted]
PHST- 2013/10/17 06:00 [entrez]
PHST- 2013/10/17 06:00 [pubmed]
PHST- 2014/01/22 06:00 [medline]
AID - S0378-1119(13)01355-3 [pii]
AID - 10.1016/j.gene.2013.10.001 [doi]
PST - ppublish
SO  - Gene. 2014 Jan 1;533(1):78-85. doi: 10.1016/j.gene.2013.10.001. Epub 2013 Oct 12.