title: 45,X/47,XXX Mosaicism and Short Stature.
abstract: We describe the case of a ten-year-old girl with short stature and 45,X/47,XXX genotype. She also suffered from vesicoureteric reflux and kidney dysfunction prior to having surgery on her ureters. Otherwise, she does not have any of the characteristics of Turner nor Triple X syndrome. It has been shown that this mosaic condition as well as other varieties creates a milder phenotype than typical Turner syndrome, which is what we mostly see in our patient. However, this patient is a special case, because she is exceptionally short. Overall, one cannot predict the resultant phenotype in these mosaic conditions. This creates difficulty in counseling parents whose children or fetuses have these karyotypes.
authors.affiliation: Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA ; Case Western Reserve University School of Medicine, 10900 Euclid Avenue, Cleveland, OH 44106, USA.
authors.forename: Erica
authors.initials: E
authors.lastname: Everest
authors.affiliation: Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA.
authors.forename: Laurie A
authors.initials: LA
authors.lastname: Tsilianidis
authors.affiliation: Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA.
authors.forename: Anzar
authors.initials: A
authors.lastname: Haider
authors.affiliation: Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA.
authors.forename: Douglas G
authors.initials: DG
authors.lastname: Rogers
authors.affiliation: Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA.
authors.forename: Nouhad
authors.initials: N
authors.lastname: Raissouni
authors.affiliation: Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA.
authors.forename: Bahareh
authors.initials: B
authors.lastname: Schweiger