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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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Hindawi Publishing Corporation 2013
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3670532/
https://ncbi.nlm.nih.gov/pubmed/23762669
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2013/306098
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