February 1963

Cockayne's Syndrome with Chromosomal Analysis

Author Affiliations

J. Windmiller, M.D., Department of Pediatrics, University of Texas Southwestern Medical School, 5323 Harry Hines Blvd., Dallas 35, Texas.; Instructor of Pediatrics, Department of Pediatrics, Southwestern Medical School (Dr. Windmiller).; Assistant Professor of Obstetrics and Gynecology, Department of Obstetrics and Gynecology, Southwestern Medical School (Dr. Whalley).; Assistant Professor of Pediatrics, Department of Pediatrics, Southwestern Medical School (Dr. Fink).

Am J Dis Child. 1963;105(2):204-208. doi:10.1001/archpedi.1963.02080040206013

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, Civantos12 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

First Page Preview View Large
First page PDF preview
First page PDF preview