Summary
A female infant with distal 18q trisomy, confirmed by G- and Q-banding was reported. Her karyotype was 46,XX,−6,+der(6), t(6;18) (18qter→18q21::6p24 or 25→6pter)pat. She had the following clinical stigmata: hypertelorism, coloboma, bulbous nose with shallow nasal bridge, high arched palate, small chin, folds of redundant nuchal skin, hemangioma and limited abduction of the hip joints.
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Supported in part by the Ministry of Health and Welfare, and the Ministry of Education, Science, and Culture of Japan in a grant given to Dr. T. Abe.
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Fukuhara, K., Fukuhara, K., Mino, M. et al. Partial 18 trisomy syndrome resulting from paternal 6/18 reciprocal translocation. Jap J Human Genet 24, 13–20 (1979). https://doi.org/10.1007/BF01890107
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DOI: https://doi.org/10.1007/BF01890107
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