Ring chromosome 10:46,XX,r(10)(p15 leads to q26)

Abstract

Cytogenetic analysis of an 8-month-old Japanese girl with moderate retardation of physical development was performed and a ring chromosome 10, 46,XX,r(10)(p15→q26), was found. She had short stature, mildly stubby nose, antimongoloid slants, and moderately protruding ears. The extremities showed erythrocyanosis, oedema, and pigmentation. Lansky et al¹ was the first to describe ring chromosome 10 with a Turner-like phenotype. Only two other cases^{2 3} have been reported so far and little is known about this syndrome. This is the report of a fourth case.