Chromosomes in coloboma and anal atresia

Abstract

SIR, -The association of coloboma with anal atresia was described in 1878 by Haab.1 We have been studying the chromosomes of 3 cases of this syndrome, independently ascertained in Zurich (cases 1 and 2) and Pavia (case 3). The phenotypic similarity of the 3 patients and the consistent finding in all of an abnormal extra chromosome of identical appearance indicate that this could be a new "chromosomal" disease. The clinical data are given below.