PMID- 23061379
OWN - NLM
STAT- MEDLINE
DCOM- 20131230
LR  - 20130610
IS  - 1399-0004 (Electronic)
IS  - 0009-9163 (Linking)
VI  - 84
IP  - 1
DP  - 2013 Jul
TI  - Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 
      region detected by array CGH.
PG  - 31-6
LID - 10.1111/cge.12036 [doi]
AB  - Although discordant phenotypes in monozygotic twins with developmental disorder 
      are not an exception, underlying genetic discordance is rarely reported. Here, we 
      report on the clinical and cytogenetic details of 4-year-old female monozygotic 
      twins with discordant phenotypes. Twin 1 exhibited global developmental delay, 
      overweight and hyperactivity. Twin 2 had an autistic spectrum disorder. Molecular 
      karyotyping in twin 1 identified a 2p25.3 deletion, further confirmed by 
      Fluorescence in situ hybridization (FISH) analysis on leukocytes. Interestingly, 
      array comparative genomic hybridization was normal in twin 2 but FISH analysis 
      using the same probe as twin 1 showed mosaicism with one-third of cells with a 
      2p25.3 deletion, one-third of cells with a 2p25.3 duplication, and one-third of 
      normal cells. Genotyping with microsatellite markers confirmed the monozygosity 
      of the twins. We propose that the chromosome imbalance may be due to a mitotic 
      non-allelic recombination occurring during blastomeric divisions of a normal 
      zygote. Such event will result in three distinct cell populations, whose 
      proportion in each embryo formed after separation from the zygote may differ, 
      leading to discordant chromosomal anomalies between twins. We also discuss that 
      the MYTL1L and the SNTG2 genes within the reported region could probably relate 
      to the phenotypic discordance of the monozygotic twins.
CI  - (c) 2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
FAU - Rio, M
AU  - Rio M
AD  - Departement de Genetique, Universite Paris Descartes, Hopital Necker-Enfants 
      Malades, AP-HP, Paris, France.
FAU - Royer, G
AU  - Royer G
FAU - Gobin, S
AU  - Gobin S
FAU - de Blois, M C
AU  - de Blois MC
FAU - Ozilou, C
AU  - Ozilou C
FAU - Bernheim, A
AU  - Bernheim A
FAU - Nizon, M
AU  - Nizon M
FAU - Munnich, A
AU  - Munnich A
FAU - Bonnefont, J-P
AU  - Bonnefont JP
FAU - Romana, S
AU  - Romana S
FAU - Vekemans, M
AU  - Vekemans M
FAU - Turleau, C
AU  - Turleau C
FAU - Malan, V
AU  - Malan V
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20121104
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
RN  - 0 (MYT1L protein, human)
RN  - 0 (Membrane Proteins)
RN  - 0 (Muscle Proteins)
RN  - 0 (Nerve Tissue Proteins)
RN  - 0 (SNTG2 protein, human)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Autistic Disorder/*genetics/physiopathology
MH  - Child, Preschool
MH  - *Chromosomes, Human, Pair 2
MH  - Comparative Genomic Hybridization
MH  - Developmental Disabilities/*genetics/physiopathology
MH  - Diseases in Twins/*genetics/physiopathology
MH  - Female
MH  - Genotype
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Membrane Proteins/*genetics
MH  - *Mosaicism
MH  - Muscle Proteins/*genetics
MH  - Nerve Tissue Proteins/*genetics
MH  - Phenotype
MH  - Recombination, Genetic
MH  - Transcription Factors/*genetics
MH  - Twins, Monozygotic/*genetics
EDAT- 2012/10/16 06:00
MHDA- 2014/01/01 06:00
CRDT- 2012/10/16 06:00
PHST- 2012/07/03 00:00 [received]
PHST- 2012/10/04 00:00 [revised]
PHST- 2012/10/05 00:00 [accepted]
PHST- 2012/10/16 06:00 [entrez]
PHST- 2012/10/16 06:00 [pubmed]
PHST- 2014/01/01 06:00 [medline]
AID - 10.1111/cge.12036 [doi]
PST - ppublish
SO  - Clin Genet. 2013 Jul;84(1):31-6. doi: 10.1111/cge.12036. Epub 2012 Nov 4.