You are here

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

Title: A balanced t(10;15) translocation in a male patient with developmental language disorder.
41 views
16 downloads
Name(s): Ercan-Sencicek, A Gulhan, author
Davis Wright, Nicole R, author
Sanders, Stephan J, author
Oakman, Nicole, author
Valdes, Lianna, author
Bakkaloglu, Betul, author
Doyle, Niamh, author
Yrigollen, Carolyn M, author
Morgan, Thomas M, author
Grigorenko, Elena L, author
Type of Resource: text
Genre: Text
Date Issued: 2012-02-01
Physical Form: computer
online resource
Extent: 1 online resource
Language(s): English
Abstract/Description: 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.
Identifier: FSU_pmch_22266071 (IID), 10.1016/j.ejmg.2011.12.005 (DOI), PMC3322462 (PMCID), 22266071 (RID), 22266071 (EID), S1769-7212(11)00134-0 (PII)
Grant Number: DC007665, HD052120, P50 HD052120, P50 HD052120-05, R01 DC007665, R01 DC007665-05
Publication Note: This NIH-funded author manuscript originally appeared in PubMed Central at http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3322462.
Subject(s): Child
Chromosome Breakpoints
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 15
Humans
In Situ Hybridization, Fluorescence
Language Development Disorders/genetics
Male
Semaphorins/genetics
Translocation, Genetic
Persistent Link to This Record: http://purl.flvc.org/fsu/fd/FSU_pmch_22266071
Owner Institution: FSU
Is Part Of: European journal of medical genetics.
1878-0849
Issue: iss. 2, vol. 55

Choose the citation style.
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. Retrieved from http://purl.flvc.org/fsu/fd/FSU_pmch_22266071