A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss

A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss

17p13 is a chromosomal region characterized by genomic instability due to high gene density leading to multiple deletion and duplication events. 17p13.3 microduplication syndrome is a rare condition, reported only in 40 cases worldwide, which is found in the Miller–Dieker chromosomal region, present...

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Bibliographic Details
Main Authors: Spiros Vittas, Maria Bisba, Georgia Christopoulou, Loukia Apostolakopoulou, Roser Pons, Pantelis Constantoulakis
Format: Article
Language:English
Published: MDPI AG 2023-06-01
Series:Genes
Subjects:
17p13.3
microduplication
<i>YHWAE</i>
array-CGH
WES
neurodevelopmental disorders
Online Access:https://www.mdpi.com/2073-4425/14/7/1333

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https://www.mdpi.com/2073-4425/14/7/1333

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