Pure interstitial dup(6)(q22.31q22.31) – a case report

‘Pure’ interstitial duplication of chr6q is rare. The varying size of duplication encompassing 6q22.31 is associated with the expressivity of dysmorphism and autism. Here, we report a unique case with facial dysmorphism, developmental delay, complex neurological impairment and spasticity unrelated t...

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Autores principales: Sheth, Frenny, Trivedi, Sunil, Andrieux, Joris, Blouin, Jean-Louis, Sheth, Jayesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4347966/
https://www.ncbi.nlm.nih.gov/pubmed/25637059
http://dx.doi.org/10.1186/s13052-015-0113-y
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author Sheth, Frenny
Trivedi, Sunil
Andrieux, Joris
Blouin, Jean-Louis
Sheth, Jayesh
author_facet Sheth, Frenny
Trivedi, Sunil
Andrieux, Joris
Blouin, Jean-Louis
Sheth, Jayesh
author_sort Sheth, Frenny
collection PubMed
description ‘Pure’ interstitial duplication of chr6q is rare. The varying size of duplication encompassing 6q22.31 is associated with the expressivity of dysmorphism and autism. Here, we report a unique case with facial dysmorphism, developmental delay, complex neurological impairment and spasticity unrelated to autism. Genetic analysis by aCGH exhibited a 627–971 kb dup(6)(q22.31q22.31) encompassing TRDN and NKAIN2 genes. The presence of the duplication was confirmed by quantitative PCR in the proband and phenotypically normal parents. With the current techniques, we cannot exclude presence of a deleterious homozygous point mutation in the proband where each copy would have been inherited from both parents.
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spelling pubmed-43479662015-03-05 Pure interstitial dup(6)(q22.31q22.31) – a case report Sheth, Frenny Trivedi, Sunil Andrieux, Joris Blouin, Jean-Louis Sheth, Jayesh Ital J Pediatr Case Report ‘Pure’ interstitial duplication of chr6q is rare. The varying size of duplication encompassing 6q22.31 is associated with the expressivity of dysmorphism and autism. Here, we report a unique case with facial dysmorphism, developmental delay, complex neurological impairment and spasticity unrelated to autism. Genetic analysis by aCGH exhibited a 627–971 kb dup(6)(q22.31q22.31) encompassing TRDN and NKAIN2 genes. The presence of the duplication was confirmed by quantitative PCR in the proband and phenotypically normal parents. With the current techniques, we cannot exclude presence of a deleterious homozygous point mutation in the proband where each copy would have been inherited from both parents. BioMed Central 2015-01-31 /pmc/articles/PMC4347966/ /pubmed/25637059 http://dx.doi.org/10.1186/s13052-015-0113-y Text en © Sheth et al.; licensee BioMed Central. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Sheth, Frenny
Trivedi, Sunil
Andrieux, Joris
Blouin, Jean-Louis
Sheth, Jayesh
Pure interstitial dup(6)(q22.31q22.31) – a case report
title Pure interstitial dup(6)(q22.31q22.31) – a case report
title_full Pure interstitial dup(6)(q22.31q22.31) – a case report
title_fullStr Pure interstitial dup(6)(q22.31q22.31) – a case report
title_full_unstemmed Pure interstitial dup(6)(q22.31q22.31) – a case report
title_short Pure interstitial dup(6)(q22.31q22.31) – a case report
title_sort pure interstitial dup(6)(q22.31q22.31) – a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4347966/
https://www.ncbi.nlm.nih.gov/pubmed/25637059
http://dx.doi.org/10.1186/s13052-015-0113-y
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