Inherited type of chromosomal microstructural rearrangements

Abstract

We present cases of chromosomal microstructural rearrangements in families with variable phenotypes: microduplication syndrome Xq28 (MECP2) in a girl with typical dismorphic features as a result of an unbalanced translocation between X-chromosome and chromosome 4 inherited from the mother who had a balanced aberration, and DiGeorgy syndrome with variable features in sisters that was inherited from the father carrying a rare balanced structural rearrangement with a marker chromosome.