Anémie de fanconi au CHU Hassan II Fès: à propos de 6 observations Article Swipe
Laila Bouguenouch
,
Imane Samri
,
Meryem Abbassi
,
Hasna Hamdaoui
,
Ihsane El Otmani
,
Hanane Sayel
,
Said Trhanint
,
Sara Benmiloud
,
Moncif Amrani
,
S. Bennis
,
Karim Ouldim
,
Mustapha Hida
·
YOU?
·
· 2017
· Open Access
·
· DOI: https://doi.org/10.11604/pamj.2017.28.286.4372
YOU?
·
· 2017
· Open Access
·
· DOI: https://doi.org/10.11604/pamj.2017.28.286.4372
L'anémie de Fanconi est une maladie récessive associée à une instabilité chromosomique, elle est marquée par une hétérogénéité phénotypique qui inclut une insuffisance médullaire, un syndrome malformatif variable, une prédisposition à développer des leucémies aiguës myéloïdes (LAM) et une hypersensibilité cellulaire aux agents pontant l'ADN. Le diagnostic est basé sur l'augmentation anormale du taux de cassures chromosomiques spontanées mais surtout, et de manière spécifique, sur une augmentation nette de ces cassures chromosomiques en présence d'agents alkylants bifonctionnels, ce qui est le cas pour nos six patients. Le conseil génétique rejoint celui des maladies autosomiques récessives. Nous rapportons nos premières observations au CHU Hassan II Fès, confirmées par la mise en évidence d'une grande instabilité chromosomique après culture sous Mitomycine C en comparaison avec un témoin normal. Le but de cet article est la mise à jour de nos connaissances sur la génétique de l'Anémie de Fanconi et à travers ces six observations nous illustrons le rôle de la cytogénétique dans le diagnostic et le conseil génétique pour une meilleure prise en charge aussi bien des enfants atteints que de leurs familles.
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Metadata
- Type
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- Language
- fr
- Landing Page
- https://doi.org/10.11604/pamj.2017.28.286.4372
- https://www.panafrican-med-journal.com/content/DownloadFile.php?Type=Art&PdfTarget=28-286-4372
- OA Status
- gold
- References
- 11
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2772684487
All OpenAlex metadata
Raw OpenAlex JSON
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https://openalex.org/W2772684487Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.11604/pamj.2017.28.286.4372Digital Object Identifier
- Title
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Anémie de fanconi au CHU Hassan II Fès: à propos de 6 observationsWork title
- Type
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articleOpenAlex work type
- Language
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frPrimary language
- Publication year
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2017Year of publication
- Publication date
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2017-01-01Full publication date if available
- Authors
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Laila Bouguenouch, Imane Samri, Meryem Abbassi, Hasna Hamdaoui, Ihsane El Otmani, Hanane Sayel, Said Trhanint, Sara Benmiloud, Moncif Amrani, S. Bennis, Karim Ouldim, Mustapha HidaList of authors in order
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https://doi.org/10.11604/pamj.2017.28.286.4372Publisher landing page
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https://www.panafrican-med-journal.com/content/DownloadFile.php?Type=Art&PdfTarget=28-286-4372Direct link to full text PDF
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YesWhether a free full text is available
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goldOpen access status per OpenAlex
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https://www.panafrican-med-journal.com/content/DownloadFile.php?Type=Art&PdfTarget=28-286-4372Direct OA link when available
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Physics, Medicine, Molecular biology, Humanities, Biology, PhilosophyTop concepts (fields/topics) attached by OpenAlex
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0Total citation count in OpenAlex
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10Other works algorithmically related by OpenAlex
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