Noninvasive prenatal testing suggesting an abnormality in chromosome 15 confirmed to be a case of Prader–Willi syndrome caused by trisomy rescue in the neonatal period

We report a case of a neonatal diagnosis of Prader–Willi syndrome caused by uniparental disomy. A 34‐year‐old pregnant woman underwent noninvasive prenatal testing (NIPT) in a hospital that was not certified by the Japanese Association of Medical Sciences. The results of trisomy 13, 18, and 21 were...

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Veröffentlicht in:	The journal of obstetrics and gynaecology research 2022-08, Vol.48 (8), p.2214-2218
Hauptverfasser:	Okuda, Tomohiro, Moroto, Masaharu, Yamamoto, Toshiyuki
Format:	Artikel
Sprache:	eng
Schlagworte:	Case reports Chromosome 15 Chromosome aberrations confined placental mosaicism Genetic counseling Hypogonadism Mosaicism Neonates noninvasive prenatal testing Patau's syndrome Prader-Willi syndrome Trisomy trisomy rescue Uniparental disomy
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