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

9 Scopus citations

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 2012
Externally publishedYes

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Ercan-Sencicek, A. G., Davis Wright, N. R., Sanders, S. J., Oakman, N., Valdes, L., Bakkaloglu, B., Doyle, N., Yrigollen, C. M., Morgan, T. M., & 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