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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Detalles Bibliográficos
Autores principales: Watanabe, Takafumi, Ishibashi, Makiho, Suganuma, Ryota, Ohara, Miki, Soeda, Shu, Komiya, Hiromi, Fujimori, Keiya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099023/
https://www.ncbi.nlm.nih.gov/pubmed/30147905
http://dx.doi.org/10.1002/ccr3.1596
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author Watanabe, Takafumi
Ishibashi, Makiho
Suganuma, Ryota
Ohara, Miki
Soeda, Shu
Komiya, Hiromi
Fujimori, Keiya
author_facet Watanabe, Takafumi
Ishibashi, Makiho
Suganuma, Ryota
Ohara, Miki
Soeda, Shu
Komiya, Hiromi
Fujimori, Keiya
author_sort Watanabe, Takafumi
collection PubMed
description 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 irregularity. Our findings expand the known spectrum of unbalanced X‐autosome translocations, for improved clinical management.
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spelling pubmed-60990232018-08-24 Mild phenotypes associated with an unbalanced X‐autosome translocation, 46,X,der(X)t(X;8)(q28;q13) Watanabe, Takafumi Ishibashi, Makiho Suganuma, Ryota Ohara, Miki Soeda, Shu Komiya, Hiromi Fujimori, Keiya Clin Case Rep Case Reports 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 irregularity. Our findings expand the known spectrum of unbalanced X‐autosome translocations, for improved clinical management. John Wiley and Sons Inc. 2018-06-24 /pmc/articles/PMC6099023/ /pubmed/30147905 http://dx.doi.org/10.1002/ccr3.1596 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Watanabe, Takafumi
Ishibashi, Makiho
Suganuma, Ryota
Ohara, Miki
Soeda, Shu
Komiya, Hiromi
Fujimori, Keiya
Mild phenotypes associated with an unbalanced X‐autosome translocation, 46,X,der(X)t(X;8)(q28;q13)
title Mild phenotypes associated with an unbalanced X‐autosome translocation, 46,X,der(X)t(X;8)(q28;q13)
title_full Mild phenotypes associated with an unbalanced X‐autosome translocation, 46,X,der(X)t(X;8)(q28;q13)
title_fullStr Mild phenotypes associated with an unbalanced X‐autosome translocation, 46,X,der(X)t(X;8)(q28;q13)
title_full_unstemmed Mild phenotypes associated with an unbalanced X‐autosome translocation, 46,X,der(X)t(X;8)(q28;q13)
title_short Mild phenotypes associated with an unbalanced X‐autosome translocation, 46,X,der(X)t(X;8)(q28;q13)
title_sort mild phenotypes associated with an unbalanced x‐autosome translocation, 46,x,der(x)t(x;8)(q28;q13)
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099023/
https://www.ncbi.nlm.nih.gov/pubmed/30147905
http://dx.doi.org/10.1002/ccr3.1596
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