DOI

  • 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

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.

Язык оригиналаанглийский
Страницы (с-по)128-131
Число страниц4
ЖурналEuropean Journal of Medical Genetics
Том55
Номер выпуска2
DOI
СостояниеОпубликовано - фев 2012

    Предметные области Scopus

  • Генетика
  • Генетика (клиническая)

ID: 87391965