Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

Abstract

The sample was collected in four Italian Genetic Centres. Patients were selected on the basis of the following criteria: (1) the presence of mental retardation that was classified as mild, moderate, or severe according to DSM IV3; (2) patients under 1 year of age, too young for psychological assessment, were selected for the presence of developmental delay; (3) exclusion of pre- or perinatal distress through an accurate evaluation of the pre-, peri-, and postnatal patient history; and (4) exclusion of Mendelian syndromes and of genomic disorders4 5 for which a specific diagnostic test is available.