Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot

We report on a male patient and members of his family with additional mater ial in chromosome 3. This derivative chromosome 3 was transmitted from his mother who had a complex rearrangement between chromosomes 2, 3, and 7. It was possible to delineate her chromosomal rearrangement by microdissection and reverse painting and to exclude these aberrations from being responsibl e for neonatal deaths and several abortions in this family. Two members of this family suffer from ectrodactyly or split hand/foot malformations (SHFM ) of the feet which possibly correlates with the derivative chromosome 7 co ntaining a breakpoint in the SHFM1 critical, region involving several homeo box genes.