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Chromosome 1p31.1 Deletion Syndrome: Limited Expression

Chromosomal microdeletion syndromes usually present with neurological abnormalities, developmental delays, and various systemic abnormalities. 1p31 microdeletion syndrome is one of the novel microdeletion syndromes that usually presents with developmental delay, intellectual disability, various cran...

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Autores principales: Biswal, Seba, Parida, Preetinanda, Dubbudu, Aranya, Sharawat, Indar Kumar, Panda, Prateek Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8061518/
https://www.ncbi.nlm.nih.gov/pubmed/33911383
http://dx.doi.org/10.4103/aian.AIAN_258_20
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author Biswal, Seba
Parida, Preetinanda
Dubbudu, Aranya
Sharawat, Indar Kumar
Panda, Prateek Kumar
author_facet Biswal, Seba
Parida, Preetinanda
Dubbudu, Aranya
Sharawat, Indar Kumar
Panda, Prateek Kumar
author_sort Biswal, Seba
collection PubMed
description Chromosomal microdeletion syndromes usually present with neurological abnormalities, developmental delays, and various systemic abnormalities. 1p31 microdeletion syndrome is one of the novel microdeletion syndromes that usually presents with developmental delay, intellectual disability, various craniofacial abnormalities, and other systemic abnormalities in a proportion of cases. NEGR1 and NFIA are few of the genes present in this locus responsible for these symptoms. However, none of the reported cases had only isolated intellectual disability. Here, we are reporting a case of 1p31 microdeletion syndrome with isolated moderate intellectual disability and hyperactivity in an 11-year-old boy. It is essential for clinicians to be aware of such an atypical presentation of 1p31.1 microdeletion syndrome, to maintain reasonable clinical suspicion in cases with unexplained intellectual disability.
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spelling pubmed-80615182021-04-27 Chromosome 1p31.1 Deletion Syndrome: Limited Expression Biswal, Seba Parida, Preetinanda Dubbudu, Aranya Sharawat, Indar Kumar Panda, Prateek Kumar Ann Indian Acad Neurol Case Report Chromosomal microdeletion syndromes usually present with neurological abnormalities, developmental delays, and various systemic abnormalities. 1p31 microdeletion syndrome is one of the novel microdeletion syndromes that usually presents with developmental delay, intellectual disability, various craniofacial abnormalities, and other systemic abnormalities in a proportion of cases. NEGR1 and NFIA are few of the genes present in this locus responsible for these symptoms. However, none of the reported cases had only isolated intellectual disability. Here, we are reporting a case of 1p31 microdeletion syndrome with isolated moderate intellectual disability and hyperactivity in an 11-year-old boy. It is essential for clinicians to be aware of such an atypical presentation of 1p31.1 microdeletion syndrome, to maintain reasonable clinical suspicion in cases with unexplained intellectual disability. Wolters Kluwer - Medknow 2021 2021-02-16 /pmc/articles/PMC8061518/ /pubmed/33911383 http://dx.doi.org/10.4103/aian.AIAN_258_20 Text en Copyright: © 2006 - 2021 Annals of Indian Academy of Neurology https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Biswal, Seba
Parida, Preetinanda
Dubbudu, Aranya
Sharawat, Indar Kumar
Panda, Prateek Kumar
Chromosome 1p31.1 Deletion Syndrome: Limited Expression
title Chromosome 1p31.1 Deletion Syndrome: Limited Expression
title_full Chromosome 1p31.1 Deletion Syndrome: Limited Expression
title_fullStr Chromosome 1p31.1 Deletion Syndrome: Limited Expression
title_full_unstemmed Chromosome 1p31.1 Deletion Syndrome: Limited Expression
title_short Chromosome 1p31.1 Deletion Syndrome: Limited Expression
title_sort chromosome 1p31.1 deletion syndrome: limited expression
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8061518/
https://www.ncbi.nlm.nih.gov/pubmed/33911383
http://dx.doi.org/10.4103/aian.AIAN_258_20
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