Birth of a boy with isolated short stature after prenatal diagnosis of a Xp22.3 nullosomy due to an inherited t(X;15) (p22.3;p10) translocation

KEY CLINICAL MESSAGE: Translocations between X and acrocentric chromosomes are rare. We report on the inheritance of a familial t(X;15)(p22.3;p10) translocation in a fetus referred for short long bones. Cytogenetic analysis revealed an unbalanced translocation combined with a three-gene nullosomy. A...

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Detalles Bibliográficos
Autores principales: Blondeel, E, Molina-Gomes, D, Bouhanna, P, Fauvert, D, Crosnier, H, Dessuant, H, Vialard, F
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184603/
https://www.ncbi.nlm.nih.gov/pubmed/25356259
http://dx.doi.org/10.1002/ccr3.71
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author Blondeel, E
Molina-Gomes, D
Bouhanna, P
Fauvert, D
Crosnier, H
Dessuant, H
Vialard, F
author_facet Blondeel, E
Molina-Gomes, D
Bouhanna, P
Fauvert, D
Crosnier, H
Dessuant, H
Vialard, F
author_sort Blondeel, E
collection PubMed
description KEY CLINICAL MESSAGE: Translocations between X and acrocentric chromosomes are rare. We report on the inheritance of a familial t(X;15)(p22.3;p10) translocation in a fetus referred for short long bones. Cytogenetic analysis revealed an unbalanced translocation combined with a three-gene nullosomy. After genetic counseling, a prognosis was established and a healthy boy was delivered.
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spelling pubmed-41846032014-10-29 Birth of a boy with isolated short stature after prenatal diagnosis of a Xp22.3 nullosomy due to an inherited t(X;15) (p22.3;p10) translocation Blondeel, E Molina-Gomes, D Bouhanna, P Fauvert, D Crosnier, H Dessuant, H Vialard, F Clin Case Rep Case Reports KEY CLINICAL MESSAGE: Translocations between X and acrocentric chromosomes are rare. We report on the inheritance of a familial t(X;15)(p22.3;p10) translocation in a fetus referred for short long bones. Cytogenetic analysis revealed an unbalanced translocation combined with a three-gene nullosomy. After genetic counseling, a prognosis was established and a healthy boy was delivered. Blackwell Publishing Ltd 2014-06 2014-05-05 /pmc/articles/PMC4184603/ /pubmed/25356259 http://dx.doi.org/10.1002/ccr3.71 Text en © 2014 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Blondeel, E
Molina-Gomes, D
Bouhanna, P
Fauvert, D
Crosnier, H
Dessuant, H
Vialard, F
Birth of a boy with isolated short stature after prenatal diagnosis of a Xp22.3 nullosomy due to an inherited t(X;15) (p22.3;p10) translocation
title Birth of a boy with isolated short stature after prenatal diagnosis of a Xp22.3 nullosomy due to an inherited t(X;15) (p22.3;p10) translocation
title_full Birth of a boy with isolated short stature after prenatal diagnosis of a Xp22.3 nullosomy due to an inherited t(X;15) (p22.3;p10) translocation
title_fullStr Birth of a boy with isolated short stature after prenatal diagnosis of a Xp22.3 nullosomy due to an inherited t(X;15) (p22.3;p10) translocation
title_full_unstemmed Birth of a boy with isolated short stature after prenatal diagnosis of a Xp22.3 nullosomy due to an inherited t(X;15) (p22.3;p10) translocation
title_short Birth of a boy with isolated short stature after prenatal diagnosis of a Xp22.3 nullosomy due to an inherited t(X;15) (p22.3;p10) translocation
title_sort birth of a boy with isolated short stature after prenatal diagnosis of a xp22.3 nullosomy due to an inherited t(x;15) (p22.3;p10) translocation
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184603/
https://www.ncbi.nlm.nih.gov/pubmed/25356259
http://dx.doi.org/10.1002/ccr3.71
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