Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization.

Pericentric inversions of chromosome 19 are very rare rearrangements. Only one case was shown to have resulted in duplication deficiency in the offspring. We report a familial case of pericentric inversion of chromosome 19 not detectable by standard karyotype and usual subtelomeric FISH probes.