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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Veröffentlicht in:	Molecular syndromology Jg. 9; H. 5; S. 235
Hauptverfasser:	Kadiyska, Tanya, Tourtourikov, Ivan, Petrov, Asen, Chavoushian, Ani, Antalavicheva, Miglena, König, Eva-Maria, Klopocki, Eva, Vessela, Nikolova, Stanislavov, Romil
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	Switzerland 01.01.2019
Schlagworte:	Asthenoteratozoospermia Array CGH Familial adenomatous polyposis TSSK1B
ISSN:	1661-8769
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