Derivative chromosomal structures from a ring chromsome 4.

Abstract

This report describes the results from cultured lymphocytes studied at metaphase, anaphase, and interphase from an individual with a ring chromosome 4. A ring was present in 90.1% of metaphases. Special attention was directed towards the occurrence of derivative chromosomal structures, such as partially duplicated and triplicated rings, tricentric rings, chains of 3 interlocked rings, rod-shaped chromosomes, "pulverized" rings, and others. The clinical features of the individual (small stature and impaired mental development, hypoplastic thumbs, ptosis palpebrae hypoplastic external male genitalia, abnormal dermatoglphic pattern) did not conform to a specific phenotype.