![]() ![]() ![]() The high degree of variability of the phenotype is the hallmark of DS clinical picture, not every patient having the same problems or associated conditions.ĭown syndrome incidence is ranging from 1 in 650 to 1 in 1000 live births dependent on the population (4). There were many studies performed to identify a correlation between genotype and phenotype in Down syndrome.ĭown syndrome (DS) is a clinical entity recognized for about 150 years (1), correlated 100 years later with trisomy 21 (2), represents the most common human autosomal aneuploidy and also the most common cause of intellectual disability (3). About half of patients with Down syndrome have congenital heart disease, and atrioventricular septal defects are the most common defects found.īasic research on Down syndrome is now rapidly accelerating, using new genomic technologies. Lately, advances in Down syndrome research have been registered, but little is known about cardiovascular phenotype in Down syndrome. ![]() Early clinical diagnosis is extremely important for patient prognosis. Prenatal and postnatal testing has become commonly used to diagnose different cases presenting the same pathology. Mainly there are three cytogenetic forms of Down syndrome: free trisomy 21, mosaic trisomy 21 and robertsonian translocation trisomy 21. The mapping for phenotypes to specific regions of chromosome 21 permits to identify which genes (or small regions) contribute to the phenotypic features of Down syndrome and thus, to understand its pathogenesis. Patients with Down syndrome also present many other congenital anomalies. Down syndrome is a genetic disorder characterized by distinct physical features and some degree of cognitive disability. During the last years, Down syndrome has been the focus of special attention. ![]()
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