Prader-Willi syndrome and mosaic Turner's syndrome.
We present a female with both Prader-Willi syndrome and Turner's syndrome, a combination not previously reported. We review her clinical presentation and discuss her growth pattern, mental development, and puberty, in relation to her mosaic Turner and Prader-Willi syndromes.
Monzavi
Roshanak
R
Center for Endocrinology, Diabetes, and Metabolism, Childrens Hospital Los Angeles, Department of Pediatrics, USC Keck School of Medicine, Los Angeles, CA, USA.
Fefferman
Richard A
RA
Pitukcheewanont
Pisit
P
D002648:Child; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D005260:Female; D006130:Growth Disorders / Q000150:complications / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D011218:Prader-Willi Syndrome / Q000150:complications* / Q000235:genetics*; D014424:Turner Syndrome / Q000150:complications* / Q000235:genetics*