Article

Subtle phenotypic effects of mosaic trisomy X in monozygotic twins with Prader-Willi syndrome: case report and review of literature

2023-01-03

Abstract excerpt

<h4>Background: </h4> We described the first monozygotic twins with 46, XX/47, XXX mosaicism and Prader-Willi syndrome, who were manifested with typical Prader-Willi syndrome (PWS) symptoms and slight trisomy X characteristics. Trisomy X symptoms can differentiate greatly, ranging from no significant manifest to special appearance, whereas 46, XX/47, XXX mosaicism may be rather inapparent. Case presentation The...

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Literature Corpus work: 0657e804-3576-58d2-acc6-ecda0561fc86
DOI: 10.21203/rs.3.rs-2387697/v1

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