PMID- 24649379
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20140320
LR  - 20211021
IS  - 2090-6544 (Print)
IS  - 2090-6552 (Electronic)
IS  - 2090-6552 (Linking)
VI  - 2014
DP  - 2014
TI  - An interstitial deletion at 10q26.2q26.3.
PG  - 505832
LID - 10.1155/2014/505832 [doi]
LID - 505832
AB  - We present a case of an interstitial subtelomeric 10q26 deletion in a male child 
      with moderate developmental delay and minor dysmorphic features. Using array 
      comparative genomic hybridization (CGH) and fluorescence in situ hybridization 
      (FISH), we have detected an interstitial deletion at 10q26.2q26.3 encompassing a 
      5.8 Mb region and spanning 24 genes. Interestingly, losses of this chromosome 10 
      region have not been previously associated with a phenotype outcome. According to 
      an in silico evaluation, we have suggested that PPP2R2D and BNIP3 losses are 
      likely a cause of developmental delay in the index patient. Our data allow to 
      speculating that haploinsufficiency of these two genes in 10q26.3, which is 
      usually ignored in the context of chromosome 10q deletions, has a phenotypic 
      effect.
FAU - Iourov, Ivan Y
AU  - Iourov IY
AD  - Mental Health Research Center, Russian Academy of Medical Sciences, Zagorodnoe 
      Shosse 2, Moscow 117152, Russia ; Institute of Pediatrics and Children Surgery, 
      Ministry of Health of Russian Federation, Moscow 125412, Russia ; Department of 
      Medical Genetics, Russian Medical Academy of Postgraduate Education, Moscow 
      123995, Russia.
FAU - Vorsanova, Svetlana G
AU  - Vorsanova SG
AD  - Mental Health Research Center, Russian Academy of Medical Sciences, Zagorodnoe 
      Shosse 2, Moscow 117152, Russia ; Institute of Pediatrics and Children Surgery, 
      Ministry of Health of Russian Federation, Moscow 125412, Russia ; Moscow City 
      University of Psychology and Education, Moscow 127051, Russia.
FAU - Kurinnaia, Oxana S
AU  - Kurinnaia OS
AD  - Mental Health Research Center, Russian Academy of Medical Sciences, Zagorodnoe 
      Shosse 2, Moscow 117152, Russia ; Institute of Pediatrics and Children Surgery, 
      Ministry of Health of Russian Federation, Moscow 125412, Russia ; Moscow City 
      University of Psychology and Education, Moscow 127051, Russia.
FAU - Yurov, Yuri B
AU  - Yurov YB
AD  - Mental Health Research Center, Russian Academy of Medical Sciences, Zagorodnoe 
      Shosse 2, Moscow 117152, Russia ; Institute of Pediatrics and Children Surgery, 
      Ministry of Health of Russian Federation, Moscow 125412, Russia ; Moscow City 
      University of Psychology and Education, Moscow 127051, Russia.
LA  - eng
PT  - Journal Article
DEP - 20140206
PL  - United States
TA  - Case Rep Genet
JT  - Case reports in genetics
JID - 101583302
PMC - PMC3932651
EDAT- 2014/03/22 06:00
MHDA- 2014/03/22 06:01
PMCR- 2014/02/06
CRDT- 2014/03/21 06:00
PHST- 2013/11/30 00:00 [received]
PHST- 2014/01/01 00:00 [accepted]
PHST- 2014/03/21 06:00 [entrez]
PHST- 2014/03/22 06:00 [pubmed]
PHST- 2014/03/22 06:01 [medline]
PHST- 2014/02/06 00:00 [pmc-release]
AID - 10.1155/2014/505832 [doi]
PST - ppublish
SO  - Case Rep Genet. 2014;2014:505832. doi: 10.1155/2014/505832. Epub 2014 Feb 6.