| |  Online-Ressource |
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| Verfasst von: | Oner, Guner [VerfasserIn]  |
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| | Jauch, Anna [VerfasserIn] |
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| | Eggermann, Thomas [VerfasserIn] |
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| | Hardwick, R. [VerfasserIn] |
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| | Kirsch, Stefan [VerfasserIn] |
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| | Schiebel, Katrin [VerfasserIn] |
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| | Rappold, Gudrun [VerfasserIn] |
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| | Robson, Lisa [VerfasserIn] |
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| | Smith, Arabella [VerfasserIn] |
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| Titel: | Mosaic rearrangement of chromosome 18 |
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| Titelzusatz: | Characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin |
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| Verf.angabe: | Guner Oner, Anna Jauch, Thomas Eggermann, R. Hardwick, Stefan Kirsch, Katrin Schiebel, Gudrun Rappold, Lisa Robson, and Arabella Smith |
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| E-Jahr: | 2000 |
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| Jahr: | 25 April 2000 |
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| Umfang: | 6 S. |
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| Teil: | volume:92 |
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| | year:2000 |
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| | number:2 |
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| | pages:101-106 |
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| | extent:6 |
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| Fussnoten: | Gesehen am 25.03.2021 |
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| Titel Quelle: | Enthalten in: American journal of medical genetics / A |
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| Ort Quelle: | New York, NY : Wiley-Liss, 2003 |
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| Jahr Quelle: | 2000 |
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| Band/Heft Quelle: | 92(2000), 2, Seite 101-106 |
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| ISSN Quelle: | 1552-4833 |
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| Abstract: | Structural abnormalities of chromosome 18p mainly consist of isochromosomes of the short arm, which result in tetrasomy 18p. Trisomy 18p is much rarer, and less well characterized. We report on a 12-year-old girl with minor facial anomalies, delayed development, abnormal hands, atopic dermatitis, and hearing loss. She was mosaic for two abnormal cell lines in peripheral blood. In 90% of cells, a dicentric chromosome with duplication of the whole short arm of chromosome 18 resulted in trisomy 18p; 10% of cells had monosomy 18p, arising from a t(14;18)(p11;q11). FISH mapping, with multiple region specific and locus specific probes from the short and long arm of chromosome 18, showed that the structure of the dicentric chromosome 18 was 18pter→18q23::18q11→18pter. DNA polymorphisms for chromosome 18 showed that the abnormalities of chromosome 18 were paternal in origin. Combining all results, we could link the trisomy 18p and monosomy 18p to a common origin via a complex series of events in an early mitosis. Am. J. Med. Genet. 92:101-106, 2000. © 2000 Wiley-Liss, Inc. |
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| DOI: | doi:10.1002/(SICI)1096-8628(20000515)92:2<101::AID-AJMG4>3.0.CO;2-U |
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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/https://doi.org/10.1002/(SICI)1096-8628(20000515)92:2<101::AID-AJMG4>3.0.CO;2-U |
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| | Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/%28SICI%291096-8628%2820000515%2992%3A2%3C101%3A%3AAID-AJMG4%3E3.0.CO%3B ... |
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| | DOI: https://doi.org/10.1002/(SICI)1096-8628(20000515)92:2<101::AID-AJMG4>3.0.CO;2-U |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | dicentric chromosome |
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| | hearing defect |
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| | mental retardation |
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| K10plus-PPN: | 1752413091 |
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| Verknüpfungen: | → Zeitschrift |
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Mosaic rearrangement of chromosome 18 / Oner, Guner [VerfasserIn]; 25 April 2000 (Online-Ressource)
