Mild phenotypes associated with an unbalanced X‐autosome translocation, 46,X,der(X)t(X;8)(q28;q13)

Unbalanced X‐autosome translocation can result in various phenotypic manifestations. We present the first case of 46,X,der(X)t(X;8)(q28;q13) in a 34‐year‐old female with relatively mild manifestations, including congenital heart disease, epicanthal fold, mild intellectual disability, and menstrual i...

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Vydáno v:Clin Case Rep
Hlavní autoři: Watanabe, Takafumi, Ishibashi, Makiho, Suganuma, Ryota, Ohara, Miki, Soeda, Shu, Komiya, Hiromi, Fujimori, Keiya
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2018
Témata:
Case Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6099023/
https://ncbi.nlm.nih.gov/pubmed/30147905
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1596
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