Interstitial Deletion of 5q22.2q23.1 Including APC and TSSK1B in a Patient with Adenomatous Polyposis and Asthenoteratozoospermia

Interstitial 5q22 deletions are relatively rare and usually represented by severe clinical features such as developmental delay and growth retardation. Here, we report a 23-year-old male patient, referred to our laboratory for genetic confirmation of possible familial adenomatous polyposis. MLPA and...

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Bibliographic Details
Published in:Molecular syndromology Vol. 9; no. 5; p. 235
Main Authors: Kadiyska, Tanya, Tourtourikov, Ivan, Petrov, Asen, Chavoushian, Ani, Antalavicheva, Miglena, König, Eva-Maria, Klopocki, Eva, Vessela, Nikolova, Stanislavov, Romil
Format: Journal Article
Language:English
Published: Switzerland 01.01.2019
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ISSN:1661-8769
Online Access:Get more information
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