Microduplication of 3p26.3 Implicated in Cognitive Development

We report here a 34-month-old boy with global developmental delay referred for molecular karyotyping and fragile X studies. Molecular karyotype analysis revealed a microduplication in the 3p26.3 region involving part of the CHL1 and CNTN6 genes. Several deletions, one translocation, and one duplicat...

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Detalles Bibliográficos
Autores principales: Te Weehi, Leah, Maikoo, Raj, Mc Cormack, Adrian, Mazzaschi, Roberto, Ashton, Fern, Zhang, Liangtao, George, Alice M., Love, Donald R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978399/
https://www.ncbi.nlm.nih.gov/pubmed/24778888
http://dx.doi.org/10.1155/2014/295359
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author Te Weehi, Leah
Maikoo, Raj
Mc Cormack, Adrian
Mazzaschi, Roberto
Ashton, Fern
Zhang, Liangtao
George, Alice M.
Love, Donald R.
author_facet Te Weehi, Leah
Maikoo, Raj
Mc Cormack, Adrian
Mazzaschi, Roberto
Ashton, Fern
Zhang, Liangtao
George, Alice M.
Love, Donald R.
author_sort Te Weehi, Leah
collection PubMed
description We report here a 34-month-old boy with global developmental delay referred for molecular karyotyping and fragile X studies. Molecular karyotype analysis revealed a microduplication in the 3p26.3 region involving part of the CHL1 and CNTN6 genes. Several deletions, one translocation, and one duplication have previously been described in this region of chromosome 3. The CHL1 gene has been proposed as a dosage-sensitive gene with a central role in cognitive development, and so the microduplication reported here appears to be implicated in our patient's phenotype.
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spelling pubmed-39783992014-04-28 Microduplication of 3p26.3 Implicated in Cognitive Development Te Weehi, Leah Maikoo, Raj Mc Cormack, Adrian Mazzaschi, Roberto Ashton, Fern Zhang, Liangtao George, Alice M. Love, Donald R. Case Rep Genet Case Report We report here a 34-month-old boy with global developmental delay referred for molecular karyotyping and fragile X studies. Molecular karyotype analysis revealed a microduplication in the 3p26.3 region involving part of the CHL1 and CNTN6 genes. Several deletions, one translocation, and one duplication have previously been described in this region of chromosome 3. The CHL1 gene has been proposed as a dosage-sensitive gene with a central role in cognitive development, and so the microduplication reported here appears to be implicated in our patient's phenotype. Hindawi Publishing Corporation 2014 2014-02-13 /pmc/articles/PMC3978399/ /pubmed/24778888 http://dx.doi.org/10.1155/2014/295359 Text en Copyright © 2014 Leah Te Weehi et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Te Weehi, Leah
Maikoo, Raj
Mc Cormack, Adrian
Mazzaschi, Roberto
Ashton, Fern
Zhang, Liangtao
George, Alice M.
Love, Donald R.
Microduplication of 3p26.3 Implicated in Cognitive Development
title Microduplication of 3p26.3 Implicated in Cognitive Development
title_full Microduplication of 3p26.3 Implicated in Cognitive Development
title_fullStr Microduplication of 3p26.3 Implicated in Cognitive Development
title_full_unstemmed Microduplication of 3p26.3 Implicated in Cognitive Development
title_short Microduplication of 3p26.3 Implicated in Cognitive Development
title_sort microduplication of 3p26.3 implicated in cognitive development
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978399/
https://www.ncbi.nlm.nih.gov/pubmed/24778888
http://dx.doi.org/10.1155/2014/295359
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