Familial Chromosome-2, 3 Translocation Ascertained through an Infant with Multiple Malformations

Abstract

STRUCTURAL heterozygosis is the existence in heterozygous state of an interchromosomal or intrachromosomal rearrangement. Fragmentation of two chromosomes and the mutual exchange through reunion of the fragments¹ is known as reciprocal translocation. In the human being translocations are usually ascertained through cases with abnormal phenotypes,^{2 3 4 5 6 7 8 9} couples with repeated abortions^{10 , 11} or coincidental findings.In this paper we report a family with a reciprocal translocation between chromosomes 2 and 3. Transmission by balanced carriers in two generations was observed. The duplication deficiency of the genetic complement in 1 infant was manifested in multiple malformations that prompted the karyotype analysis in this kindred. . . .