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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Publicado en:J Pediatr Genet
Main Authors: Peterson, Jess F., Basel, Donald G., Bick, David P., Chirempes, Brett, Lorier, Rachel B., Zemlicka, Nykula, Grignon, John W., Weik, LuAnn, Kappes, Ulrike
Formato: Artigo
Idioma:Inglês
Publicado: Georg Thieme Verlag KG 2018
Acceso en liña: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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