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Ring chromosome 10: 46,XX,r(10)(p15→q26)
  1. Ryuichi Tsukino,
  2. Norihiko Tsuda,
  3. Tohru Dezawa,
  4. Tadashi Ishii,
  5. Michio Koike
  1. Department of Pediatrics, Wakayama Medical College, 9-Kyubancho, Wakayama, Japan


    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 cases2 3 have been reported so far and little is known about this syndrome. This is the report of a fourth case.

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