Normal postnatal outcome in an r(X) mosaic male fetus with retained XIST gene

Journal of Pediatric and Neonatal Individualized Medicine

Maura Mingoia¹  Paolo Moi¹  Daniela Gasperini²  Francesca Sessini³ 

[1] Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy;Laboratory of Genetics and Genomics, “A. Cao” Pediatric Hospital, A.O. “G. Brotzu”, Cagliari, Italy;Pediatric Clinic and Rare Diseases, “A. Cao” Pediatric Hospital, A.O. “G. Brotzu”, Cagliari, Italy;

关键词: xist gene;    x-inactivation;    smc;    r(x);    mosaicism;    prenatal diagnosis;   

DOI  :  10.7363/100113

来源: DOAJ

【 授权许可】

Unknown