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Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion,inv(18)(p11.2q21.3) |
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| Authors: | Takeshi Asano M.D. Tatsuro Ikeuchi Tamiko Shinohara Hisashi Enokido Kiyoshi Hashimoto |
| Affiliation: | 1. Department of Pediatrics, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-ku, 113, Tokyo, Japan 3. Department of Cytogenetics, Medical Research Institute, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, 113, Tokyo, Japan 4. Department of Human Cytogenetics, Japan Red Cross Medical Center, 4-1-22 Hiro-o, Shibuya-ku, 150, Tokyo, Japan 5. Department of Pediatrics, Shimodate Municipal Hospital, 1658 Tamado, 308, Shimodate, Ibaraki, Japan |
| Abstract: | A 7-year-old boy with dysmorphic features was found to have a recombinant chromosome 18, rec(18), resulting from meiotic recombination of a maternal pericentric inversion, inv(18) (p11.2q21.3), as defined by high-resolution banding. He was trisomic for the long arm (q21.3-qter) and monosomic for the short arm (p11.2-pter) of chromosome 18. His clinical features were compared with those in other rec(18) cases, and also those in monosomy 18p, trisomy 18qter and full trisomy 18 syndromes. The risk of recombinant formation for inv(18) carriers was also discussed. |
| Keywords: | chromosome 18 recombinant chromsome partial monosomy 18p partial trisomy 18q |
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