TY - JOUR T1 - Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot JF - Journal of Medical Genetics JO - J Med Genet SP - 442 LP - 445 DO - 10.1136/jmg.37.6.442 VL - 37 IS - 6 AU - Jörg Weimer AU - Marion Kiechle AU - Ute Wiedemann AU - Holger Tönnies AU - Heidemarie Neitzel AU - Eberhard Ruhenstroth AU - Angela Ovens-Raeder AU - Norbert Arnold Y1 - 2000/06/01 UR - http://jmg.bmj.com/content/37/6/442.abstract N2 - We report on a male patient and members of his family with additional material 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 responsible 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 containing a breakpoint in the SHFM1 critical region involving several homeobox genes. ER -