Prenatal diagnosis of Prader-Willi syndrome due to uniparental disomy with NIPS: Case report and literature review.,Molecular Genetics & Genomic Medicine

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Prenatal diagnosis of Prader-Willi syndrome due to uniparental disomy with NIPS: Case report and literature review.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-08-28 , DOI: 10.1002/mgg3.1448
Jekaterina Shubina ₁ , Ilya Y Barkov ₁ , Olga K Stupko ₁ , Maria V Kuznetsova ₁ , Andrey Y Goltsov ₁ , Taisya O Kochetkova ₁ , Dmitry Y Trofimov ₁ , Gennady T Sukhikh ₁

Affiliation

PWS is challenging to diagnose prenatally due to a lack of precise and well‐characterized fetal phenotypes and noninvasive markers. Here we present the case of prenatal diagnosis of Prader‐Willi syndrome, which was suspected with whole‐genome NIPS.

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