ESPE Abstracts

Introduction: Diploid/triploid mosaicism is an uncommon clinical syndrome presenting with developmental retardation and a distinctive phenotype: prenatal and postnatal asymmetric growth deficiency, distinctive facial dysmorphism, hands and feet malformations with a wide sandal gap, pigmentary dysplasia, hypotonia and hypotrophy of the musculature, and truncal obesity. However, metabolic syndrome was not reported in these patients. Diploid/triploid mosaicism ma...

Introduction: Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans. About 80% of KS patients have 47,XXY karyotype, while rest of the patients can have mosaicism or other numeric or structural sex chromosome abnormalities. Tall stature is one of the hallmarks of KS and it is thought to be due to supernumerary X chromosome leading to SHOX gene overdosage. Deletion of SHOX gene, on the contrary, has been r...