Cockayne's Syndrome with Chromosomal Analysis

Abstract

Introduction Since the introduction of techniques for the examination of human chromosomes, a number of congenital anomalies have been found to be associated with autosomal trisomy. The most well documented is the clinical syndrome of mongolism which is associated with trisomy of one of the small acrocentric chromosomes belonging to Group 21-22. 1-3 Other less common trisomic conditions which have been described include trisomy involving Groups 13-15, 4-6 16-18, 7-9 19-20, 10 and 21-22. 11 In a recent preliminary report, Civantos 12 described a case of Cockayne's syndrome in which 47 chromosomes were found, the extra chromosome belonging to Group 19-20 and tentatively identified as No. 20. Cockayne's syndrome is a rare heredofamilial disorder first described in 2 siblings in 1936 by E. A. Cockayne. 13-14 Since the original description 7 additional cases have been recorded: 2 brothers described by Neill and Dingwall, 15 2 brothers and 1 sister described