PMID- 22266071
OWN - NLM
STAT- MEDLINE
DCOM- 20120928
LR  - 20211021
IS  - 1878-0849 (Electronic)
IS  - 1769-7212 (Print)
IS  - 1769-7212 (Linking)
VI  - 55
IP  - 2
DP  - 2012 Feb
TI  - A balanced t(10;15) translocation in a male patient with developmental language 
      disorder.
PG  - 128-31
LID - 10.1016/j.ejmg.2011.12.005 [doi]
AB  - We report the clinical and cytogenetic findings on a male child with 
      developmental language disorder, no physical abnormalities, and a balanced 
      t(10;15)(q24.1;q21.1) translocation. As the child's parents are unavailable for 
      investigations, it is unclear whether the translocation is inherited or de novo. 
      Fluorescence in situ hybridization (FISH) analyses were carried out using 
      specific RP11-BAC clones mapping near 15q21.1 and 10q24.1 to refine the location 
      of the breakpoints. The breakpoint on 15q21.1 interrupts the SEMA6D gene and the 
      breakpoint on 10q24.1 is located between the ENTPD1 and CCNJ genes. The SEMA6D 
      gene was further investigated in samples of individuals with developmental 
      language disorders and controls; this investigation offered further evidence of 
      the involvement of SEMA6D with developmental language disorders.
CI  - Copyright (c) 2012 Elsevier Masson SAS. All rights reserved.
FAU - Ercan-Sencicek, A Gulhan
AU  - Ercan-Sencicek AG
AD  - Yale University, New Haven, CT 06519, USA.
FAU - Davis Wright, Nicole R
AU  - Davis Wright NR
FAU - Sanders, Stephan J
AU  - Sanders SJ
FAU - Oakman, Nicole
AU  - Oakman N
FAU - Valdes, Lianna
AU  - Valdes L
FAU - Bakkaloglu, Betul
AU  - Bakkaloglu B
FAU - Doyle, Niamh
AU  - Doyle N
FAU - Yrigollen, Carolyn M
AU  - Yrigollen CM
FAU - Morgan, Thomas M
AU  - Morgan TM
FAU - Grigorenko, Elena L
AU  - Grigorenko EL
LA  - eng
GR  - DC007665/DC/NIDCD NIH HHS/United States
GR  - R01 DC007665/DC/NIDCD NIH HHS/United States
GR  - R01 DC007665-05/DC/NIDCD NIH HHS/United States
GR  - P50 HD052120/HD/NICHD NIH HHS/United States
GR  - HD052120/HD/NICHD NIH HHS/United States
GR  - P50 HD052120-05/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20111229
PL  - Netherlands
TA  - Eur J Med Genet
JT  - European journal of medical genetics
JID - 101247089
RN  - 0 (Semaphorins)
SB  - IM
MH  - Child
MH  - Chromosome Breakpoints
MH  - Chromosomes, Human, Pair 10
MH  - Chromosomes, Human, Pair 15
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Language Development Disorders/*genetics
MH  - Male
MH  - Semaphorins/genetics
MH  - *Translocation, Genetic
PMC - PMC3322462
MID - NIHMS352925
EDAT- 2012/01/24 06:00
MHDA- 2012/09/29 06:00
PMCR- 2013/02/01
CRDT- 2012/01/24 06:00
PHST- 2011/04/24 00:00 [received]
PHST- 2011/12/14 00:00 [accepted]
PHST- 2012/01/24 06:00 [entrez]
PHST- 2012/01/24 06:00 [pubmed]
PHST- 2012/09/29 06:00 [medline]
PHST- 2013/02/01 00:00 [pmc-release]
AID - S1769-7212(11)00134-0 [pii]
AID - 10.1016/j.ejmg.2011.12.005 [doi]
PST - ppublish
SO  - Eur J Med Genet. 2012 Feb;55(2):128-31. doi: 10.1016/j.ejmg.2011.12.005. Epub 
      2011 Dec 29.