Homozygous 15q13.3 microdeletion in a child with hypotonia and impaired vision: A new report and review of the literature

Although there are numerous reports of heterozygous 15q13.3 microdeletion, homozygous 15q13.3 microdeletion is rare. We report a new patient with homozygous microdeletion of 15q13.2q13.3 and review the previous literature reports. Common clinical features include encephalopathy, hypotonia, developme...

Descripción completa

Detalles Bibliográficos
Autores principales: Simon, Julie, Stoll, Katie, Fick, Roger, Mott, Jared, Lawson‐Yuen, Amy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935653/
https://www.ncbi.nlm.nih.gov/pubmed/31893048
http://dx.doi.org/10.1002/ccr3.2403
_version_ 1783483611787296768
author Simon, Julie
Stoll, Katie
Fick, Roger
Mott, Jared
Lawson‐Yuen, Amy
author_facet Simon, Julie
Stoll, Katie
Fick, Roger
Mott, Jared
Lawson‐Yuen, Amy
author_sort Simon, Julie
collection PubMed
description Although there are numerous reports of heterozygous 15q13.3 microdeletion, homozygous 15q13.3 microdeletion is rare. We report a new patient with homozygous microdeletion of 15q13.2q13.3 and review the previous literature reports. Common clinical features include encephalopathy, hypotonia, developmental delay, cortical vision impairment, optic nerve abnormality, epilepsy, and abnormal electroencephalogram (EEG) findings.
format Online
Article
Text
id pubmed-6935653
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-69356532019-12-31 Homozygous 15q13.3 microdeletion in a child with hypotonia and impaired vision: A new report and review of the literature Simon, Julie Stoll, Katie Fick, Roger Mott, Jared Lawson‐Yuen, Amy Clin Case Rep Case Reports Although there are numerous reports of heterozygous 15q13.3 microdeletion, homozygous 15q13.3 microdeletion is rare. We report a new patient with homozygous microdeletion of 15q13.2q13.3 and review the previous literature reports. Common clinical features include encephalopathy, hypotonia, developmental delay, cortical vision impairment, optic nerve abnormality, epilepsy, and abnormal electroencephalogram (EEG) findings. John Wiley and Sons Inc. 2019-09-30 /pmc/articles/PMC6935653/ /pubmed/31893048 http://dx.doi.org/10.1002/ccr3.2403 Text en © 2019 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
Simon, Julie
Stoll, Katie
Fick, Roger
Mott, Jared
Lawson‐Yuen, Amy
Homozygous 15q13.3 microdeletion in a child with hypotonia and impaired vision: A new report and review of the literature
title Homozygous 15q13.3 microdeletion in a child with hypotonia and impaired vision: A new report and review of the literature
title_full Homozygous 15q13.3 microdeletion in a child with hypotonia and impaired vision: A new report and review of the literature
title_fullStr Homozygous 15q13.3 microdeletion in a child with hypotonia and impaired vision: A new report and review of the literature
title_full_unstemmed Homozygous 15q13.3 microdeletion in a child with hypotonia and impaired vision: A new report and review of the literature
title_short Homozygous 15q13.3 microdeletion in a child with hypotonia and impaired vision: A new report and review of the literature
title_sort homozygous 15q13.3 microdeletion in a child with hypotonia and impaired vision: a new report and review of the literature
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935653/
https://www.ncbi.nlm.nih.gov/pubmed/31893048
http://dx.doi.org/10.1002/ccr3.2403
work_keys_str_mv AT simonjulie homozygous15q133microdeletioninachildwithhypotoniaandimpairedvisionanewreportandreviewoftheliterature
AT stollkatie homozygous15q133microdeletioninachildwithhypotoniaandimpairedvisionanewreportandreviewoftheliterature
AT fickroger homozygous15q133microdeletioninachildwithhypotoniaandimpairedvisionanewreportandreviewoftheliterature
AT mottjared homozygous15q133microdeletioninachildwithhypotoniaandimpairedvisionanewreportandreviewoftheliterature
AT lawsonyuenamy homozygous15q133microdeletioninachildwithhypotoniaandimpairedvisionanewreportandreviewoftheliterature

Ejemplares similares