Ring chromosome 8 syndrome: Further characterization

We describe two de novo cases of extra r(8) confirmed by fluorescent in sit u hybridization (FISH), Based on these two and eight additional cases of ex tra r(8) confirmed by FISH, the phenotype is better documented. One of our patients had miller facial anomalies, near-normal growth, and neurological development. She had a ring in each cell analyzed. The second had minor cra niofacial anomalies and growth and mental retardation, He had a small or do uble-sized ring in each cell. The phenotype of these 10 cases ranges hom al most normal in an adult; with 10% mosaicism to variable degrees of minor an omalies, growth retardation, and mental retardation overlapping the mosaic +8 syndrome. Am. J. Med. Genet. 90:162-164, 2000, (C) 2000 Wiley-Liss, Inc.