A balanced t(10;15) translocation in a male patient with developmental language disorder. / Ercan-Sencicek, A. Gulhan; Davis Wright, Nicole R.; Sanders, Stephan J.; Oakman, Nicole; Valdes, Lianna; Bakkaloglu, Betul; Doyle, Niamh; Yrigollen, Carolyn M.; Morgan, Thomas M.; Grigorenko, Elena L.
In: European Journal of Medical Genetics, Vol. 55, No. 2, 02.2012, p. 128-131.Research output: Contribution to journal › Article › peer-review
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TY - JOUR
T1 - A balanced t(10;15) translocation in a male patient with developmental language disorder
AU - Ercan-Sencicek, A. Gulhan
AU - Davis Wright, Nicole R.
AU - Sanders, Stephan J.
AU - Oakman, Nicole
AU - Valdes, Lianna
AU - Bakkaloglu, Betul
AU - Doyle, Niamh
AU - Yrigollen, Carolyn M.
AU - Morgan, Thomas M.
AU - Grigorenko, Elena L.
N1 - Funding Information: The preparation of this article was supported by funds from the Foundation for Child Development (PI Grigorenko) and the US National Institutes of Health, NIH (awards DC007665 , PI Grigorenko, and HD052120 , PI Wagner). Grantees undertaking such projects are encouraged to freely express their professional judgment. This article, therefore, does not necessarily represent the position or policies of the NIH and no official endorsement should be inferred. We are thankful to Drs. Lesley Hart and Tina Newman, Ms. Donna Macomber, and graduate students in clinical psychology at Yale University for their contributions to the clinical evaluations of this patient. We are also thankful to Ms. Mei Tan for her editorial assistance. Last, and foremost, we are grateful to the patient's family.
PY - 2012/2
Y1 - 2012/2
N2 - 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.
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.
KW - CCNJ
KW - Chromosomal aberrations
KW - ENTPD1
KW - FISH
KW - Language disorder
KW - SEMA6D
UR - http://www.scopus.com/inward/record.url?scp=84857444289&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2011.12.005
DO - 10.1016/j.ejmg.2011.12.005
M3 - Article
C2 - 22266071
AN - SCOPUS:84857444289
VL - 55
SP - 128
EP - 131
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
SN - 1769-7212
IS - 2
ER -
ID: 87391965