Postzygotický mozaicizmus: Turnerov syndróm u plodu mužského pohlavia – kazuistika a prehľad // SOLEN

Lekárska genetika a diagnostika 2/2025

Postzygotic mosaicism: Turner syndrome in a male fetus – case report and review

Turner syndrome is a well-characterized chromosomal aneuploidy that typically affects females and is defined by complete or partial loss of one X chromosome. Cases with the presence of Y-chromosomal material and a male phenotype are rare and often result from postzygotic mosaicism. We present a case of a 36-year-old primigravida with a 45,X finding on NIPT and an ultrasound finding of male genitalia. Amniocentesis confirmed 45,X/46,XY mosaicism. This case highlights the need for comprehensive prenatal ultrasound and genetic assessment, targeted follow-up, and multidisciplinary collaboration in the diagnosis and further management of chromosomal mosaicism.

Keywords: Turner syndrome, postzygotic mosaicism, prenatal diagnosis