Mental Retardation and Phenotypic Abnormalities Associated with Apparently Balanced Translocation Involving Chromosomes 2, 3 and 7

Abstract

A 6-year-old boy with mental retardation (IQ:60) and minor anomalies including narrow forehead, small nose, short philtrum, highly arched palate, micrognathia, prominent ears, abnormal teeth and hypertrophic gums is reported. Chromosomal analysis revealed an apparently balanced complex translocation involving chromosomes 2, 3 and 7. The probable causes for mental retardation and phenotypic abnormalities in apparently balanced translocations are discussed.