Prenatal diagnosis of Prader‐Willi syndrome due to uniparental disomy with NIPS: Case report and literature review

Prenatal diagnosis of Prader‐Willi syndrome due to uniparental disomy with NIPS: Case report and literature review

Abstract Background 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. Methods Whole‐genome noninvasiv...

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Bibliographic Details
Main Authors: Jekaterina Shubina, Ilya Y. Barkov, Olga K. Stupko, Maria V. Kuznetsova, Andrey Y. Goltsov, Taisya O. Kochetkova, Dmitry Y. Trofimov, Gennady T. Sukhikh
Format: Article
Language:English
Published: Wiley 2020-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
NIPS
Prader‐Willi syndrome
rare trisomy
trisomy 15
UPD
Online Access:https://doi.org/10.1002/mgg3.1448

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