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

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...

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Veröffentlicht in:Clinical case reports 2019, Vol.7 (12), p.2311-2315
Hauptverfasser: Simon, Julie, Stoll, Katie, Fick, Roger, Mott, Jared, Lawson-Yuen, Amy
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container_title Clinical case reports
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creator Simon, Julie
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Fick, Roger
Mott, Jared
Lawson-Yuen, Amy
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.
doi_str_mv 10.1002/ccr3.2403
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source Wiley Online Library Open Access; DOAJ Directory of Open Access Journals; Wiley Online Library Journals Frontfile Complete; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central
title Homozygous 15q13.3 microdeletion in a child with hypotonia and impaired vision: A new report and review of the literature
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