FISH ANALYSIS OF A COMPLEX CHROMOSOME REARRANGEMENT INVOLVING 9 BREAKPOINTS ON CHROMOSOME-6, CHROMOSOME-12, CHROMOSOME-14 AND CHROMOSOME-16

We report the prenatal diagnosis of an apparently balanced de novo com plex chromosome rearrangement (CCR) which involved nine breakpoints on four different chromosomes. Fluorescence in situ hybridization (FISH) and spectral karyotyping (SKY) were performed as an adjunct to G-band ing for characterization of the abnormal chromosomes. The 22-week fema le fetus showed minor dysmorphic features including dolichocephaly, br oad fingernails, tibial bowing, clubfoot, thoracolumbar scoliosis and hypoplastic toenails. Autopsy revealed gall-bladder hypoplasia and an atrial septal defect. Chromosome analysis of fetal tissue confirmed th e presence of the complex rearrangement. (C) 1998 John Wiley & Sons, L td.