Case Report

Gonadal Dysgenesis in a Neonate With 45,X/47,XXX Karyotype

Authors: SONIA KHEIR MD, RICARDO CEBALLOS MD, SARA FINLEY MD, PAULA VINSON PhD.

Abstract

SUMMARY 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.

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References