Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 d...

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Autores principales: Malvestiti, Francesca, Benedicenti, Francesco, De Toffol, Simona, Chinetti, Sara, Höller, Adelheid, Grimi, Beatrice, Fichtel, Gertrud, Braghetto, Monica, Agrati, Cristina, Bonaparte, Eleonora, Maggi, Federico, Simoni, Giuseppe, Grati, Francesca Romana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3670532/
https://www.ncbi.nlm.nih.gov/pubmed/23762669
http://dx.doi.org/10.1155/2013/306098
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author Malvestiti, Francesca
Benedicenti, Francesco
De Toffol, Simona
Chinetti, Sara
Höller, Adelheid
Grimi, Beatrice
Fichtel, Gertrud
Braghetto, Monica
Agrati, Cristina
Bonaparte, Eleonora
Maggi, Federico
Simoni, Giuseppe
Grati, Francesca Romana
author_facet Malvestiti, Francesca
Benedicenti, Francesco
De Toffol, Simona
Chinetti, Sara
Höller, Adelheid
Grimi, Beatrice
Fichtel, Gertrud
Braghetto, Monica
Agrati, Cristina
Bonaparte, Eleonora
Maggi, Federico
Simoni, Giuseppe
Grati, Francesca Romana
author_sort Malvestiti, Francesca
collection PubMed
description Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion. We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4.
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spelling pubmed-36705322013-06-12 Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes Malvestiti, Francesca Benedicenti, Francesco De Toffol, Simona Chinetti, Sara Höller, Adelheid Grimi, Beatrice Fichtel, Gertrud Braghetto, Monica Agrati, Cristina Bonaparte, Eleonora Maggi, Federico Simoni, Giuseppe Grati, Francesca Romana Case Rep Genet Case Report Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion. We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4. Hindawi Publishing Corporation 2013 2013-05-16 /pmc/articles/PMC3670532/ /pubmed/23762669 http://dx.doi.org/10.1155/2013/306098 Text en Copyright © 2013 Francesca Malvestiti et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Malvestiti, Francesca
Benedicenti, Francesco
De Toffol, Simona
Chinetti, Sara
Höller, Adelheid
Grimi, Beatrice
Fichtel, Gertrud
Braghetto, Monica
Agrati, Cristina
Bonaparte, Eleonora
Maggi, Federico
Simoni, Giuseppe
Grati, Francesca Romana
Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes
title Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes
title_full Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes
title_fullStr Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes
title_full_unstemmed Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes
title_short Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes
title_sort recombinant chromosome 4 from a familial pericentric inversion: prenatal and adulthood wolf-hirschhorn phenotypes
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3670532/
https://www.ncbi.nlm.nih.gov/pubmed/23762669
http://dx.doi.org/10.1155/2013/306098
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