Summary
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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Sonoda, T., Ohba, Ki., Ohdo, S. et al. 9p Deletion and distal 9q duplication due to a paternal pericentric inversion 9(p22q32). Jap J Human Genet 36, 111–116 (1991). https://doi.org/10.1007/BF01876811
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DOI: https://doi.org/10.1007/BF01876811
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