Case of partial duplication 2q3 with characteristic phenotype: Rare occurrence of an unbalanced offspring resulting from a parental pericentric inversion

We report on a male infant with partial trisomy 2q (q34-->qter) resulting f rom a maternal pericentric inversion of chromosome 2 (p25.2q34). The infant had clinical findings similar to the characteristic phenotype associated w ith a partial duplication of chromosome 2q3. Carriers of pericentric invers ions of chromosome 2 have an increased risk of pregnancy loss but have only rarely been reported to have a Liveborn offspring with an unbalanced chrom osome constitution. This case further confirms the risks associated with a pericentric inversion of chromosome 2 and is the second report with manifes tations of the trisomy 2q3 phenotype. (C) 2000 Wiley-Liss, Inc.