Endocrine Abstracts

Trisomy 21 or Down syndrome is the most common autosomal aneuploidy and the leading genetic cause of intellectual disability worldwide. It is a genetic disease, resulting from the presence of a supernumerary chromosome for the 21st chromosomal pair. It is responsible for a phenotype associating a dysmorphic syndrome, malformations (cardiac, digestive, urinary\..), psychomotor retardation, and can be accompanied by other pathologies and complications (epilepsy, leukemia\..). We...

Trisomy 18, or Edwards syndrome, is a chromosomal disorder, due to the presence of a supernumerary chromosome 18. Worldwide, it is estimated to have a prevalence of 1/6000 live births, of which the most affected are female. Infants with trisomy 18 have a high mortality rate, secondary to the lethal malformations associated with this syndrome. The objective of this study is to describe the clinical and cytogenetic characteristics of these patients and to demonstrate the value o...