Clinical and molecular genetic study in patients presenting skin pigmentary dysplasia associated with NEUROPSYCHOMOTOR retardation and some dysmorphic features

Abstract

Chromossomal aberrations are first suspected etiology in patients with multiple congenital anomalies, neuropsychomotor retardation and/or mental retardation. It appears that in some patients, this phenotype is associated with pigmentary changes such as skin blemishes. However, not always the result of the karyotype in peripheral blood for these patients reveals chromosomal abnormalities. Thus, the cytogenetic analysis of another tissue, such as culture and karyotyping of skin fibroblasts, it is important to verify the presence of hidden mosaicism that could explain the clinical phenotype. In this work we investigate patients presenting with skin pigmentary dysplasia associated with neuropsychomotor retardation and some dysmorphic features, without previous clinical diagnosis, from the Department of ICR (HC FMUSP) using different techniques of cell culture and classical and molecular karyotyping. The identification of cryptic chromosomal abnormalities will help better karyotype-phenotype correlation in addition to genetic counseling to patients and their families. (AU)