Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations

Chromosomal microarray (CMA) can detect pathogenic copy number variations in 15–20% of individuals with intellectual disability and in 10% of patients with autism spectrum disorders. The diagnostic rate in specific learning disorders (SLD) is unknown. Our study emphasizes the usefulness of CMA in th...

Descripción completa

Detalles Bibliográficos
Autores principales: Coton, Julie, Labalme, Audrey, Till, Marianne, Bussy, Gerald, Krifi Papoz, Sonia, Lesca, Gaetan, Heron, Delphine, Sanlaville, Damien, Edery, Patrick, des Portes, Vincent, Rossi, Massimiliano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930267/
https://www.ncbi.nlm.nih.gov/pubmed/29744066
http://dx.doi.org/10.1002/ccr3.1450
_version_ 1783319470948745216
author Coton, Julie
Labalme, Audrey
Till, Marianne
Bussy, Gerald
Krifi Papoz, Sonia
Lesca, Gaetan
Heron, Delphine
Sanlaville, Damien
Edery, Patrick
des Portes, Vincent
Rossi, Massimiliano
author_facet Coton, Julie
Labalme, Audrey
Till, Marianne
Bussy, Gerald
Krifi Papoz, Sonia
Lesca, Gaetan
Heron, Delphine
Sanlaville, Damien
Edery, Patrick
des Portes, Vincent
Rossi, Massimiliano
author_sort Coton, Julie
collection PubMed
description Chromosomal microarray (CMA) can detect pathogenic copy number variations in 15–20% of individuals with intellectual disability and in 10% of patients with autism spectrum disorders. The diagnostic rate in specific learning disorders (SLD) is unknown. Our study emphasizes the usefulness of CMA in the diagnostic workout assessment of familial SLD.
format Online
Article
Text
id pubmed-5930267
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-59302672018-05-09 Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations Coton, Julie Labalme, Audrey Till, Marianne Bussy, Gerald Krifi Papoz, Sonia Lesca, Gaetan Heron, Delphine Sanlaville, Damien Edery, Patrick des Portes, Vincent Rossi, Massimiliano Clin Case Rep Case Reports Chromosomal microarray (CMA) can detect pathogenic copy number variations in 15–20% of individuals with intellectual disability and in 10% of patients with autism spectrum disorders. The diagnostic rate in specific learning disorders (SLD) is unknown. Our study emphasizes the usefulness of CMA in the diagnostic workout assessment of familial SLD. John Wiley and Sons Inc. 2018-03-09 /pmc/articles/PMC5930267/ /pubmed/29744066 http://dx.doi.org/10.1002/ccr3.1450 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Coton, Julie
Labalme, Audrey
Till, Marianne
Bussy, Gerald
Krifi Papoz, Sonia
Lesca, Gaetan
Heron, Delphine
Sanlaville, Damien
Edery, Patrick
des Portes, Vincent
Rossi, Massimiliano
Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations
title Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations
title_full Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations
title_fullStr Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations
title_full_unstemmed Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations
title_short Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations
title_sort characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930267/
https://www.ncbi.nlm.nih.gov/pubmed/29744066
http://dx.doi.org/10.1002/ccr3.1450
work_keys_str_mv AT cotonjulie characterizationoftwofamilialcasespresentingwithasyndromicspecificlearningdisorderandcarrying17q21qunbalancedtranslocations
AT labalmeaudrey characterizationoftwofamilialcasespresentingwithasyndromicspecificlearningdisorderandcarrying17q21qunbalancedtranslocations
AT tillmarianne characterizationoftwofamilialcasespresentingwithasyndromicspecificlearningdisorderandcarrying17q21qunbalancedtranslocations
AT bussygerald characterizationoftwofamilialcasespresentingwithasyndromicspecificlearningdisorderandcarrying17q21qunbalancedtranslocations
AT krifipapozsonia characterizationoftwofamilialcasespresentingwithasyndromicspecificlearningdisorderandcarrying17q21qunbalancedtranslocations
AT lescagaetan characterizationoftwofamilialcasespresentingwithasyndromicspecificlearningdisorderandcarrying17q21qunbalancedtranslocations
AT herondelphine characterizationoftwofamilialcasespresentingwithasyndromicspecificlearningdisorderandcarrying17q21qunbalancedtranslocations
AT sanlavilledamien characterizationoftwofamilialcasespresentingwithasyndromicspecificlearningdisorderandcarrying17q21qunbalancedtranslocations
AT ederypatrick characterizationoftwofamilialcasespresentingwithasyndromicspecificlearningdisorderandcarrying17q21qunbalancedtranslocations
AT desportesvincent characterizationoftwofamilialcasespresentingwithasyndromicspecificlearningdisorderandcarrying17q21qunbalancedtranslocations
AT rossimassimiliano characterizationoftwofamilialcasespresentingwithasyndromicspecificlearningdisorderandcarrying17q21qunbalancedtranslocations

Ejemplares similares