Mechanisms and consequences of chromosomal abnormalities

The aim of this study is to determine the frequency of microscopic chromosomal abnormalities in individuals with developmental disabilities, birth defects, and/or multiple reproductive losses. While routine cytogenetic analysis has been performed for many of these individuals, this technique is unable to detect subtle chromosome difference that may contribute to clinical findings. This information would help to develop genotype/phenotype correlations, identify candidate genes, and discover mechanisms of how imbalances may occur.