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Partial 10q trisomy with partial 12q monosomy
  1. Nobuto Mitsufujia,
  2. Sachiko Tokudaa,
  3. Hidekazu Nakanoina,
  4. Hiroshi Yoshiokab,
  5. Tadashi Sawadab
  1. aDepartment of Pediatrics, Kyoto First Red Cross Hospital, Japan, bDepartment of Pediatrics, Kyoto Prefectural University of Medicine, Japan
  1. Dr N Mitsufuji, Department of Pediatrics, Kyoto First Red Cross Hospital, 15-749 Honmachi, Higashiyama-ku, Kyoto 605, Japan.

Abstract

A case of partial trisomy 10q with partial monosomy 12q is reported. The chromosomal abnormalities resulted from a paternal balanced, reciprocal translocation involving chromosomes 10 and 12, which, to the best of our knowledge, has not been previously described.

  • distal 10q trisomy syndrome
  • partial monosomy 12q
  • congenital malformations
  • genital abnormalities

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