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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Main Authors:	Francesca Malvestiti, Francesco Benedicenti, Simona De Toffol, Sara Chinetti, Adelheid Höller, Beatrice Grimi, Gertrud Fichtel, Monica Braghetto, Cristina Agrati, Eleonora Bonaparte, Federico Maggi, Giuseppe Simoni, Francesca Romana Grati
Format:	Article
Language:	English
Published:	Hindawi Limited 2013-01-01
Series:	Case Reports in Genetics
Online Access:	http://dx.doi.org/10.1155/2013/306098

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spelling	doaj-d91cd6b8cc794080b801e21e87e8f3222020-11-24T23:06:28ZengHindawi LimitedCase Reports in Genetics2090-65442090-65522013-01-01201310.1155/2013/306098306098Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn PhenotypesFrancesca Malvestiti0Francesco Benedicenti1Simona De Toffol2Sara Chinetti3Adelheid Höller4Beatrice Grimi5Gertrud Fichtel6Monica Braghetto7Cristina Agrati8Eleonora Bonaparte9Federico Maggi10Giuseppe Simoni11Francesca Romana Grati12Research and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., 25/27 Francesco Ferrer Street Varese (VA), 21052 Busto Arsizio, ItalyServizio di Consulenza Genetica dell’Alto Adige, Dipartimento di Pediatria, Ospedale di Bolzano, 39100 Bolzano, ItalyResearch and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., 25/27 Francesco Ferrer Street Varese (VA), 21052 Busto Arsizio, ItalyResearch and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., 25/27 Francesco Ferrer Street Varese (VA), 21052 Busto Arsizio, ItalyLaboratorio di Citogenetica, Ospedale di Bolzano, 39100 Bolzano, ItalyResearch and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., 25/27 Francesco Ferrer Street Varese (VA), 21052 Busto Arsizio, ItalyServizio di Anatomia e Istologia Patologica, Ospedale di Bolzano, 39100 Bolzano, ItalyReparto di Ostetricia e Ginecologia, Ospedale di Bolzano, 39100 Bolzano, ItalyResearch and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., 25/27 Francesco Ferrer Street Varese (VA), 21052 Busto Arsizio, ItalyResearch and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., 25/27 Francesco Ferrer Street Varese (VA), 21052 Busto Arsizio, ItalyResearch and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., 25/27 Francesco Ferrer Street Varese (VA), 21052 Busto Arsizio, ItalyResearch and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., 25/27 Francesco Ferrer Street Varese (VA), 21052 Busto Arsizio, ItalyResearch and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., 25/27 Francesco Ferrer Street Varese (VA), 21052 Busto Arsizio, ItalyPericentric 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.http://dx.doi.org/10.1155/2013/306098
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Francesca Malvestiti Francesco Benedicenti Simona De Toffol Sara Chinetti Adelheid Höller Beatrice Grimi Gertrud Fichtel Monica Braghetto Cristina Agrati Eleonora Bonaparte Federico Maggi Giuseppe Simoni Francesca Romana Grati
spellingShingle	Francesca Malvestiti Francesco Benedicenti Simona De Toffol Sara Chinetti Adelheid Höller Beatrice Grimi Gertrud Fichtel Monica Braghetto Cristina Agrati Eleonora Bonaparte Federico Maggi Giuseppe Simoni Francesca Romana Grati Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes Case Reports in Genetics
author_facet	Francesca Malvestiti Francesco Benedicenti Simona De Toffol Sara Chinetti Adelheid Höller Beatrice Grimi Gertrud Fichtel Monica Braghetto Cristina Agrati Eleonora Bonaparte Federico Maggi Giuseppe Simoni Francesca Romana Grati
author_sort	Francesca Malvestiti
title	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_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_sort	recombinant chromosome 4 from a familial pericentric inversion: prenatal and adulthood wolf-hirschhorn phenotypes
publisher	Hindawi Limited
series	Case Reports in Genetics
issn	2090-6544 2090-6552
publishDate	2013-01-01
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.
url	http://dx.doi.org/10.1155/2013/306098
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Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

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