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

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Ercan-Sencicek A. G., Wright N. R. D., Sanders S. J., Oakman N., Valdes L., Bakkaloglu B., ...Daha Fazla

EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.55, sa.2, ss.128-131, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 55 Sayı: 2
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1016/j.ejmg.2011.12.005
  • Dergi Adı: EUROPEAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.128-131
  • Anahtar Kelimeler: Language disorder, Chromosomal aberrations, SEMA6D, FISH, ENTPD1, CCNJ, HIDDEN-MARKOV MODEL, SNP GENOTYPING DATA, SPEECH, IDENTIFICATION, EXPRESSION, AUTISM, BRAIN
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

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. (C) 2012 Elsevier Masson SAS. All rights reserved.