Trizómia chromozómu 16 mimikujúca hydatidóznu molu

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Autoři: Lajos Gergely ^1,2 ; Miroslav Korbeľ ^2,3 ; Ľudovít Danihel ^2,4; Vanda Repiská ^1,2 ; Miroslav Tomka ¹ ; Liam McCullough ^2,3 ; Petra Priščáková ^1,2
Působiště autorů: Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University Bratislava, Bratislava, Slovak Republic ¹; Centre for Gestational Trophoblastic Dis ease of Slovak Republic, Bratislava, Slovak Republic ²; 1st Department of Gynaecology and Obstetrics, Faculty of Medicine, Comenius University Bratislava, Bratislava, Slovak Republic ³; Institute of Pathological Anatomy, Faculty of Medicine, Comenius University Bratislava, Bratislava, Slovak Republic ⁴
Vyšlo v časopise: Ceska Gynekol 2024; 89(5): 396-399
Kategorie: Kazuistika
doi: https://doi.org/10.48095/cccg2024396

Souhrn

Autori prezentujú prípad I. trimestrového potratu s klinicky suponovanou skorou formou kompletnej moly hydatidózy. Histopatologická a imunohistochemická analýza vylúčila kompletnú molu, ale histomorfologický profil naznačoval parciálnu hydatidóznu molu. Genetická analýza vylúčila parciálnu molu na základe biparentálnej kompozície genómu, ďalšie genetické analýzy odhalili trizómiu chromozómu 16. Trizómia chromozómu 16 je častou príčinou potratov v I. trimestri a môže viesť k vysoko abnormálnej histomorfológii placenty napodobňujúcej parciálnu molu. Genetické analýzy sú v týchto prípadoch rozhodujúce pre správnu diferenciálnu dia gnostiku, a teda pre stanovenie adekvátnej dispenzárnej starostlivosti a prognózy pre ďalšie gravidity.

Klíčová slova:

analýza DNA – trizómia 16 – aneuploidia – histomorfológia placenty

Zdroje

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ORCID authors

L. Gergely 0000-0003-3407-7914

M. Korbeľ 0000-0002-5773-2371

V. Repiská 0000-0003-1907-8468

M. Tomka 0000-0002-5731-9720

L. McCullough 0009-0002-9237-7472

P. Priščáková 0000-0001-7287-3837

Submitted/Doručené: 8. 4. 2024

Accepted/Prijaté: 30. 4. 2024

Lajos Gergely, MD

Institute of Medical Biology

Genetics and Clinical Genetics