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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Vydané v:	Molecular syndromology Ročník 9; číslo 5; s. 235
Hlavní autori:	Kadiyska, Tanya, Tourtourikov, Ivan, Petrov, Asen, Chavoushian, Ani, Antalavicheva, Miglena, König, Eva-Maria, Klopocki, Eva, Vessela, Nikolova, Stanislavov, Romil
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	Switzerland 01.01.2019
Predmet:	Asthenoteratozoospermia Array CGH Familial adenomatous polyposis TSSK1B
ISSN:	1661-8769
On-line prístup:	Zistit podrobnosti o prístupe
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