DNA ANALYSIS OF PARTIAL HYDATIDIFORM MOLE REVEALING TRIANDRIC MONOGYNIC TETRAPLOIDY

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  • Lajos Gergely Ústav lekárskej biológie, genetiky a klinickej genetiky, Lekárska fakulta, Univerzita Komenského v Bratislave
  • Miroslav Korbeľ
  • Vanda Repiská
  • Ľudovít Danihel
  • Juraj Hutník
  • Liam McCullough
  • Petra Priščáková

Klíčová slova:

DNA analysis, short tandem repeat genotyping, tetraploidy, partial hydatidiform mole, retained product of conception

Abstrakt

The authors present a case of a partial hydatidiform mole where DNA analysis (short tandem repeat genotyping, STR) showed a triandric monogynic tetraploid genome composition with a XXXY gonosomal complement. This genetic finding clinicopathologically correlates with a partial hydatidiform mole, although it is rare in comparison with the typical, diandric monogynic triploid partial moles. The genetic analysis definitively confirmed the suspected diagnosis of a partial mole. To exclude the possibility that molar pregnancy represented retained products of conception after elective pregnancy termination, STR profiles from molar pregnancy and previous products of conception were compared.

Short tandem repeats genotyping is a useful molecular genetic method in the differential diagnosis of partial hydatidiform moles, where clinical-pathological findings are frequently ambiguous.

Stahování

Publikováno

2023-12-18

Číslo

Sekce

Gynekologie

Kategorie