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A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the XIST Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33)
We report a 19-year-old female patient with a history of short stature, primary ovarian insufficiency, sensorineural hearing loss, sacral teratoma, neurogenic bladder, and intellectual disability with underlying mosaicism for der(X)t(X;3)(q13.2;q25.33), a ring X chromosome, and monosomy X. Derivativ...
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| Опубликовано в: : | J Pediatr Genet |
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| Главные авторы: | , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Georg Thieme Verlag KG
2018
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| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5809172/ https://ncbi.nlm.nih.gov/pubmed/29441218 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0037-1604448 |
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