An unusual chromosomal aberration in a case of Chediak-Higashi syndrome.

Chediak-Higashi syndrome which appears to be a lysosomal disease (Douglas and Fudenberg, 1969; White, 1966) is characterized by partial albinism, photophobia, recurrent infections, hepatosplenomegaly, and a distinctive leucocyte anomaly (Chediak, 1952; Higashi, 1954). Available genetic and fine structural studies suggest that the condition is inherited as an autosomal recessive trait (Sadan et al., 1965; Douglas, Blume, and Wolff, 1969). Chromosome studies have been done in a few cases, but as expected have not shown any significant numerical chromosomal abnormalities (Kritzler et al., 1964; Rosenszajn et al., 1969). The condition does not seem to be confined to a particular population group, since patients with this syndrome have been reported from various parts of the world. The purpose of this communication is to report a case of Chediak-Higashi syndrome from Turkey, in which chromosome studies revealed an unexpected and unusual abnormality in the form of partial monosomy for a G group chromosome (45,XY,G 46,XY/46,XY,Gr).