FAMILIAL 10P TRISOMY RESULTING FROM A MATERNAL PERICENTRIC-INVERSION

We report a familial recombination of a pericentric inversion of chrom osome 10 resulting in 2 affected relatives who had 10p trisomy and 10q monosomy with the karyotypic abnormality designated rec(l0) dup p,inv (l0) (p11.2q26). Both of these individuals had the typical characteris tics of 10p trisomy, however, at birth the proposita had mild facial a nomalies suggesting that the distinct facial characteristics may be of postnatal onset in some cases. In addition, the proposita had gastroe sophageal reflux causing severe anemia. The phenotype of our patients is compared to 41 patients with 10p trisomy reported in the literature . (C) 1994 Wiley-Liss, Inc.