9p Deletion and distal 9q duplication due to a paternal pericentric inversion 9(p22q32) |
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| Authors: | Tohru Sonoda Ken-ichi Ohba Shozo Ohdo Koji Sameshima |
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| Affiliation: | 1. Department of Pediatrics, Miyazaki Medical College, Kiyotake-cho, 889-16, Miyazaki, Japan
2. Department of Pediatrics, Faculty of Medicine, Kagoshima University, Usuki-cho, Kagoshima 890, Japan
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| Abstract: | A female infant with 46,XX,rec(9), dup q,inv(9)(p22q32)pat is presented. She had a duplication from 9q32 to qter and a deletion from 9q22 to 9pter. Phenotypical abnormalities observed corresponded with features noted in cases with distal dup (9q), while pathognomonic features of del(9p) syndrome were not observed. |
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| Keywords: | chromosome 9 pericentric inversion recombinant chromosome duplication-deletion |
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