Research Article
Alterations and Chromosomal Variants in the Ecuadorian Population
Table 1
Chromosomal autosomopathies in the registry.
| | Number | % |
| | Trisomy 9 (mosaic) | 2 | 0.2 | | Trisomy 13 | 14 | 1.6 | | Trisomy 13 (mosaic) | 1 | 0.1 | | Trisomy 18 | 19 | 2.2 | | Trisomy 18 (mosaic) | 1 | 0.1 | | Trisomy 19 | 2 | 0.2 | | Trisomy 19 (mosaic) | 1 | 0.1 | | Trisomy 21 | | | | Free trisomy | 674 | 78.6 | | Mosaic | 91 | 10.6 | | Isochromosome | 5 | 0.6 | | Translocation | 14 | 1.6 | | Translocation (mosaic) | 1 | 0.1 | | Trisomy 22 | 1 | 0.1 | | Partial trisomy | | | | 4p+ | 2 | 0.2 | | 7p+ | 1 | 0.1 | | 9p+ | 1 | 0.1 | | 14p+ | 3 | 0.3 | | 15p+ | 3 | 0.3 | | 19p+ | 2 | 0.2 | | 19q+ | 1 | 0.1 | | 21q+ | 1 | 0.1 | | 22p+ | 2 | 0.2 | | Partial monosomy | | | | 5p− | 4 | 0.5 | | 12p− | 1 | 0.1 | | 17q− | 1 | 0.1 | | 13q− | 3 | 0.3 | | 18p− | 1 | 0.1 | | Isochromosome 17 | 1 | 0.1 | | Ring chromosome 1 | 1 | 0.1 | | Ring chromosome 9 | 1 | 0.1 | | Ring chromosome 15 | 1 | 0.1 | | inv (9) mosaic | 1 | 0.1 | | Add (8) (p23) | 1 | 0.1 |
| | Total | 858 | 100.0 |
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