A balanced t(10;15) translocation in a male patient with developmental language disorder

A. Gulhan Ercan-Sencicek, Nicole R. Davis Wright, Stephan J. Sanders, Nicole Oakman, Lianna Valdes, Betul Bakkaloglu, Niamh Doyle, Carolyn M. Yrigollen, Thomas M. Morgan, Elena L. Grigorenko

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)128-131
Number of pages4
JournalEuropean Journal of Medical Genetics
Volume55
Issue number2
DOIs
StatePublished - Feb 1 2012
Externally publishedYes

Fingerprint

Language Development Disorders
Genes
Fluorescence In Situ Hybridization
Cytogenetics
Clone Cells
Parents

Keywords

  • CCNJ
  • Chromosomal aberrations
  • ENTPD1
  • FISH
  • Language disorder
  • SEMA6D

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Ercan-Sencicek, A. G., Davis Wright, N. R., Sanders, S. J., Oakman, N., Valdes, L., Bakkaloglu, B., ... Grigorenko, E. L. (2012). A balanced t(10;15) translocation in a male patient with developmental language disorder. European Journal of Medical Genetics, 55(2), 128-131. https://doi.org/10.1016/j.ejmg.2011.12.005

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, 01.02.2012, p. 128-131.

Research output: Contribution to journalArticle

Ercan-Sencicek, AG, Davis Wright, NR, Sanders, SJ, Oakman, N, Valdes, L, Bakkaloglu, B, Doyle, N, Yrigollen, CM, Morgan, TM & Grigorenko, EL 2012, 'A balanced t(10;15) translocation in a male patient with developmental language disorder', European Journal of Medical Genetics, vol. 55, no. 2, pp. 128-131. https://doi.org/10.1016/j.ejmg.2011.12.005
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. / A balanced t(10;15) translocation in a male patient with developmental language disorder. In: European Journal of Medical Genetics. 2012 ; Vol. 55, No. 2. pp. 128-131.
@article{5ed1509e873a4b1abfe02846dfc7c2fe,
title = "A balanced t(10;15) translocation in a male patient with developmental language disorder",
abstract = "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.",
keywords = "CCNJ, Chromosomal aberrations, ENTPD1, FISH, Language disorder, SEMA6D",
author = "Ercan-Sencicek, {A. Gulhan} and {Davis Wright}, {Nicole R.} and Sanders, {Stephan J.} and Nicole Oakman and Lianna Valdes and Betul Bakkaloglu and Niamh Doyle and Yrigollen, {Carolyn M.} and Morgan, {Thomas M.} and Grigorenko, {Elena L.}",
year = "2012",
month = "2",
day = "1",
doi = "10.1016/j.ejmg.2011.12.005",
language = "English (US)",
volume = "55",
pages = "128--131",
journal = "European Journal of Medical Genetics",
issn = "1769-7212",
publisher = "Elsevier Masson SAS",
number = "2",

}

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.

PY - 2012/2/1

Y1 - 2012/2/1

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

UR - http://www.scopus.com/inward/citedby.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 -