Chromosome 10qter deletion syndrome: A review and report of three new cases

Abstract
We report on three patients with terminal deletions of chromosome l0q and compare them to 15 previously reported patients. A similar facial appearance with a prominent beaked nose, large and/or malformed ears, and a pattern of major abnormalities including severe mental retardation, cardiac anomalies, and anogenital anomalies are reviewed. We feel the manifestations of del l0qter are sufficiently distinct to suggest this diagnosis on clinical examination.

This publication has 11 references indexed in Scilit: