Gonadal dysgenesis in a neonate with 45,X/47,XXX karyotype.
A case of X/XXX mosaicism in a neonate with dysgenetic gonads is presented because of the rarity of the X/XXX karyotype and the presence of dysgenetic ovaries and congenital heart anomalies. We suggest that the X/XXX mosaicism may not have a protective effect on the gonads as does X/XX mosaicism in some cases.
D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009030:Mosaicism; D010053:Ovary / Q000648:ultrastructure; D014424:Turner Syndrome / Q000235:genetics*