A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review

A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review

Abstract Background Distal chromosome 16 duplication syndrome (also known as 16q partial trisomy) is a very rare genetic disorder recently described in few clinical reports. 16q trisomy is generally associated with a multisystemic phenotype including intrauterine growth restriction (IUGR), brain and...

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Bibliographic Details
Main Authors: Antonino Moschella, Anna Paola Capra, Domenico Corica, Giorgia Pepe, Silvia Di Tommaso, Ester Sallicandro, Malgorzata G. Wasniewska, Silvana Briuglia, Tommaso Aversa
Format: Article
Language:English
Published: BMC 2023-12-01
Series:BMC Medical Genomics
Subjects:
16q22
Distal duplication of chromosome 16q
CNV
Intellectual disability
Overgrowth
Obesity
Online Access:https://doi.org/10.1186/s12920-023-01716-3

Internet

https://doi.org/10.1186/s12920-023-01716-3

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