[Phenotypic disorders in balanced reciprocal translocation: karyotype 46,XY,rcp(13; 21)(q22; q22)]

Abstract

Clinical and cytogenetical analyses of a 2-month child revealed multiple congenital malformations and minor abnormalities characteristic of 13q- and 21q-syndromes. Phenotypic disturbances seem to be due to a balanced reciprocal translocation between the long arms of chromosomes 13 and 21 with breakage points in 13q22 and 21q22. A possibility of the position effect of genes located near the breakage points is discussed as a reason of the features observed.