SummaryA 2.5-year-old boy with a ring chromosome 10 was described. Clinical features included developmental retardation, short stature, mild mental retardation and cryptorchidism. He had a history of photohypersensitivity. By using PHA stimulated peripheral blood lymphocytes, Epstein-Barr virus transformed lymphoblastoid cell line and cultured skin fibroblasts, his karyotype was identified to be mos45,XY,-10/46,XY/ 46,XY,r(10) (pl 5.3q26.3).
INTRODUCTIONOnly nine patients with a ring chromosome 10 have so far been reported (Lansky et al., 1977;Fryns et al., 1978;Sparkes et al., 1978;Simoni et al., 1979;Tsukino et al., 1980;Michels et al., 1981, Serville et al., 1982Nakai et al., 1983;Kondo et al., 1984). In this report, we present a patient with a mosaic karyotype of 45,XY, -10/46,XY/46,XY,r(10) (pl 5.3@6.3) who showed relatively mild phenotypic anomalies. The ring chromosome was analyzed in more detail by high-resolution banding.
CASE REPORTThe proband was the first child of non-consanguineous parents. He was born after an uncomplicated pregnancy of 39 weeks and a normal delivery. There was