| |  Online-Ressource |
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| Verfasst von: | Jaklin, Christian [VerfasserIn]  |
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| | Jauch, Anna [VerfasserIn] |
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| Titel: | Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy |
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| Verf.angabe: | Christian Jaklin, Katrin Heiliger, Maja Hempel, Doris Sollacher, Monika Cohen, Christine C. Makowski, Thomas Meitinger, Anna Jauch, Konrad Oexle |
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| E-Jahr: | 2012 |
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| Jahr: | 6 July 2012 |
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| Umfang: | 5 S. |
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| Fussnoten: | Available online 6 July 2012 ; Gesehen am 05.07.2018 |
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| Titel Quelle: | Enthalten in: European journal of medical genetics |
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| Ort Quelle: | New York, NY [u.a.] : Elsevier, 2005 |
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| Jahr Quelle: | 2012 |
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| Band/Heft Quelle: | 55(2012), 10, Seite 568-572 |
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| ISSN Quelle: | 1878-0849 |
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| Abstract: | We report on a de novo interstitial del/dup aberration consisting of a 13.3 Mb deletion of 5q15-5q21.3 (92.1-105.4 Mb, hg19) and a 23.6 Mb tandem direct duplication of 5q21.3-5q23.3 (106.1-129.7 Mb, hg19). Although the aberration covered a total of 60.6 Mb, it was cryptic, i.e., not detectable by karyotyping at a resolution of 430 bands. Array-CGH indicated a diploid region of 0.6 Mb between the duplicated and the deleted segment. The aberration affected a 14-month-old boy conceived after intracytoplasmic sperm injection who presented with developmental delay, muscular hypotonia, partial agenesis of the corpus callosum, prominent forehead, low set ears, hypertelorism, hyperopia, wide-bridged nose, retrognathia, high palate, and cryptorchidism. The duplicated segment comprised the LMNB1 gene, thus predicting adult-onset autosomal-dominant leukodystrophy and revealing a temporal dimension of the phenotype. Counseling problems implicated by this prediction include “the right not to know” that the patient might want to exercise when coming of age. |
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| DOI: | doi:10.1016/j.ejmg.2012.06.010 |
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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: http://www.sciencedirect.com/science/article/pii/S1769721212002054 |
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| | Volltext: http://dx.doi.org/10.1016/j.ejmg.2012.06.010 |
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| | DOI: https://doi.org/10.1016/j.ejmg.2012.06.010 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | 5q15-5q21.3 microdeletion |
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| | 5q21.3-5q23.3 microduplication |
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| | ACC |
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| | ADLD |
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| | Counseling |
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| | Ethics |
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| | ICSI |
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| | Intellectual disability |
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| | Lamin B1 |
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| | Predictive diagnosis |
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| K10plus-PPN: | 1577322304 |
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| Verknüpfungen: | → Zeitschrift |
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Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy / Jaklin, Christian [VerfasserIn]; 6 July 2012 (Online-Ressource)
