| |  Online-Ressource |
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| Verfasst von: | Grasshoff, Ute [VerfasserIn]  |
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| | Bonin, Michael [VerfasserIn] |
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| | Goehring, Ina [VerfasserIn] |
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| | Ekici, Arif [VerfasserIn] |
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| | Dufke, Andreas [VerfasserIn] |
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| | Cremer, Kirsten [VerfasserIn] |
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| | Wagner, Nicholas [VerfasserIn] |
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| | Rossier, Eva [VerfasserIn] |
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| | Jauch, Anna [VerfasserIn] |
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| | Walter, Michael [VerfasserIn] |
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| | Bauer, Claudia [VerfasserIn] |
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| | Bauer, Peter [VerfasserIn] |
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| | Horber, Karl [VerfasserIn] |
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| | Beck-Woedl, Stefanie [VerfasserIn] |
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| | Wieczorek, Dagmar [VerfasserIn] |
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| Titel: | De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation |
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| Verf.angabe: | Ute Grasshoff, Michael Bonin, Ina Goehring, Arif Ekici, Andreas Dufke, Kirsten Cremer, Nicholas Wagner, Eva Rossier, Anna Jauch, Michael Walter, Claudia Bauer, Peter Bauer, Karl Horber, Stefanie Beck-Woedl, and Dagmar Wieczorek |
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| E-Jahr: | 2011 |
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| Jahr: | 16 February 2011 |
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| Umfang: | 6 S. |
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| Fussnoten: | Gesehen am 11.07.2022 |
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| Titel Quelle: | Enthalten in: European journal of human genetics |
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| Ort Quelle: | Basingstoke : Stockton Press, 1998 |
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| Jahr Quelle: | 2011 |
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| Band/Heft Quelle: | 19(2011), 5, Seite 507-512 |
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| ISSN Quelle: | 1476-5438 |
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| Abstract: | Xq28 duplications including MECP2 are a well-known cause of severe mental retardation in males with seizures, muscular hypotonia, progressive spasticity, poor speech and recurrent infections that often lead to early death. Female carriers usually show a normal intellectual performance due to skewed X-inactivation (XCI). We report on two female patients with a de novo MECP2 duplication associated with moderate mental retardation. In both patients, the de novo duplication occurred on the paternal allele, and both patients show a random XCI, which can be assumed as the triggering factor for the phenotype. Furthermore, we describe the phenotype that might be restricted to unspecific mild-to -moderate mental retardation with neurological features in early adulthood. |
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| DOI: | doi:10.1038/ejhg.2010.226 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext ; Verlag: https://doi.org/10.1038/ejhg.2010.226 |
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| | Volltext: https://www.nature.com/articles/ejhg2010226 |
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| | DOI: https://doi.org/10.1038/ejhg.2010.226 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | Epigenetics |
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| | Gene duplication |
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| | Neurological disorders |
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| K10plus-PPN: | 1809696380 |
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| Verknüpfungen: | → Zeitschrift |
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De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation / Grasshoff, Ute [VerfasserIn]; 16 February 2011 (Online-Ressource)
