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3 ungesichtete Fragmente: "verdächtig" oder "Keine Wertung"

[1.] Mmu/Fragment 016 27 - Diskussion
Bearbeitet: 27. December 2014, 11:59 (Hindemith)
Erstellt: 4. November 2014, 13:31 SleepyHollow02
Fragment, KeineWertung, Mmu, SMWFragment, Schutzlevel, Stankiewicz et al 2012, ZuSichten

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Untersuchte Arbeit:
Seite: 16, Zeilen: 27-29
Quelle: Stankiewicz et al 2012
Seite(n): 30, Zeilen: 9 ff.
1.8 Microdeletion and microduplication in 10q11.22

To date, interstitial deletions involving 10q11.2 have been reported in over 40 patients with variable abnormal phenotypes but also in individuals with a normal phenotype. The only clinical features common to a majority of affected individuals [were ID and DD.]

To date, interstitial deletions involving 10q11.2 have been reported in over 10 patients with variable abnormal phenotypes, individuals with a normal phenotype, and two prenatal cases, one with a normal and the other with an abnormal phenotype [Bisgaard et al., 2007; Fewtrell et al., 1994; Fryns et al., 1991; Ghai et al., 2011; Holden and MacDonald, 1985; Kirchhoff et al., 2005; Lobo et al., 1992; Shapiro et al., 1985; Zenger-Hain et al., 1993].
Anmerkungen

The source is mentioned right after the documented passage.

Sichter
(SleepyHollow02)

[2.] Mmu/Fragment 017 01 - Diskussion
Bearbeitet: 18. December 2014, 06:35 (SleepyHollow02)
Erstellt: 4. November 2014, 13:35 SleepyHollow02
Fragment, KeineWertung, Mmu, SMWFragment, Schutzlevel, Stankiewicz et al 2012, ZuSichten

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Untersuchte Arbeit:
Seite: 17, Zeilen: 1-8
Quelle: Stankiewicz et al 2012
Seite(n): 5, Zeilen: 3 ff.
Stankiewicz and colleagues identified 24 unrelated individuals carrying a microdeletions [sic] at 10q11.21q11.23 ranging in size from ı1.9 to ı10.9 Mb. They also identified 17 individuals with reciprocal microduplications involving 10q11.21q21.1, ranging in size from ı0.3 to ı12 Mb (Stankiewicz 2010). A complex arrangement of six segmental duplication clusters have been identified in the 10q11.21q11.23 region, labelled LCR 10q11.2A-LCR10q11.2F. These segmental duplications range in size from 32 to 427 kb and have a complex evolutionary structure.

23. Stankiewicz P, Lupski JR. Structural variation in the human genome and its role in disease. Annu Rev Med. 2010;61:437-55. Review.

We identified 24 unrelated individuals with microdeletions at 10q11.21q11.23 by chromosomal microarray analysis. The deletions range in size from ~1.9 to ~10.9 Mb (Tables 1 and 2; Figs. 1–3).

We have also identified 17 individuals with reciprocal microduplications involving 10q11.21q21.1, ranging in size from ~0.3 to ~12 Mb (Table 3; Fig. 3).

Using the hg18 build of the UCSC genome browser [Bailey et al., 2001] and the hg17 build of the Human Genome Segmental Duplication Database, we identified a complex arrangement of six segmental duplication clusters in the 10q11.21q11.23 region, labeled LCR 10q11.2A-LCR10q11.2F (Fig. 3). These segmental duplications range in size from 32 to 427 kb and have a complex evolutionary structure [Deloukas et al., 2004].

Anmerkungen
Sichter
(SleepyHollow02)

[3.] Mmu/Fragment 015 25 - Diskussion
Bearbeitet: 8. December 2014, 10:58 (Graf Isolan)
Erstellt: 8. December 2014, 10:11 Graf Isolan
Capra et al 2012, Fragment, KeineWertung, Mmu, SMWFragment, Schutzlevel, ZuSichten

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Untersuchte Arbeit:
Seite: 15, Zeilen: 25-30
Quelle: Capra et al 2012
Seite(n): 2, Zeilen: left col. 1-10
All the submicroscopic rearrangements reported until now, are variable in size and have distinct breakpoints. Bruno et al. proposed to divide 17p13.3 microduplications in two different classes: class I duplications involving YWHAE but not PAFAH1B1 showing a phenotype characterized by learning difficulties and/or autism with or without other congenital abnormalities; class II duplications always harboring PAFAH1B1 that may also [include the genomic region encompassing the CRK and YWHAE genes, which are associated with developmental delay, psychomotor delay and associated hypotonia.]

13. Bruno D.L. et al. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J Med Genet 2010;47:299e311.

[All these submicroscopic rearrangements are] variable in size and have distinct breakpoints. Bruno et al. [5] proposed to divide 17p13.3 microduplications in two different classes: class I microduplications involving YWHAE but not PAFAH1B1 showing a phenotype characterized by learning difficulties and/or autism with or without other congenital abnormalities; class II microduplications always harboring PAFAH1B1 that may also include the genomic region encompassing the CRK and YWHAE genes, which are associated with developmental delay, psychomotor delay, and associated hypotonia.

5. Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgström B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BB, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J: Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J Med Genet 2010, 47:299–311.

Anmerkungen

Not marked as a citation.

Although Capra et al (2012) was published in October 2012 and thus was beyond the deadline of the thesis of Mmu, there already existed a version of the article, where this passage could be found, before August 3rd (see the pre-publication history of Capra et al (2012) here). According to Mmu's CV (which can be found in the thesis), there was a "Three months attendance of the “Département de Médicine Génétique et Développement”, University of Geneva, Switzerland" in 2012, where one of the co-authors of Capra et al (2012) is seated. Thus there is a high probability that this article (or at least a preliminary version of it) was known to Mmu during the writing of her thesis.

Sichter
(Graf Isolan)

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