von Dott. Mafalda Mucciolo
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| [1.] Mmu/Fragment 011 05 - Diskussion Zuletzt bearbeitet: 2014-12-16 09:25:03 Singulus | Fragment, Gesichtet, Mmu, Papa 2010, SMWFragment, Schutzlevel sysop, Verschleierung |
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| Untersuchte Arbeit: Seite: 11, Zeilen: (3-5).5-13 |
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| The clinical phenotypes associated with the reciprocal microduplications of the same genomic regions are, however, less well characterized probably because, in general, individuals with duplications tend to have a milder phenotype than those with the complementary deletions and this milder phenotype may not lead to clinical investigation (Van der Aa 2009; Hassed 2004; Potocki 2000). The introduction of aCGH in clinical practice has showed that the frequency of these duplications is much higher than heretofore appreciated. As aCGH becomes the primary method of testing individuals with even mild intellectual deficit/developmental delay (ID/DD), the frequency of microduplications at the common microdeletion syndrome loci will likely increase (Bejjani and Shaffer 2008).
7. Bejjani, B.A. & L.G. Shaffer, Clinical utility of contemporary molecular cytogenetics. Annu Rev Genomics Hum Genet, 2008. 9: p. 71-86. 27. Hassed S.J., et al., A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome. Clin Genet, 2004. 65(5): p. 400-4. 61. Potocki L, et al. Molecular mechanism for duplication 17p11.2-the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 2000;24:84–7. 81. Van der Aa N., et al., Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur J Med Genet, 2009. 52(2-3): p. 94-100. |
However, duplications have not been observed until fairly recently, likely because, in
general, individuals with duplications tend to have a milder phenotype than those with the complementary deletions [43] [44] [45] [46] [47] and this milder phenotype may not lead to clinical investigation. [48] [49] The introduction of aCGH in clinical practice has virtually eliminated all the technical impediments of traditional cytogenetics and FISH and allowed the detection of such conditions with relative-but not complete-independence from the clinician's diagnostic judgment. Therefore, recent reviews of cohorts of patients ascertained with aCGH showed that the frequency of these duplications is much higher than heretofore appreciated. As aCGH becomes the primary method of testing individuals with even mild DD/ID, the frequency of microduplications at the common microdeletion syndrome loci will likely increase. [37] [50] 37. Bejjani, B.A. and L.G. Shaffer, Clinical utility of contemporary molecular cytogenetics. Annu Rev Genomics Hum Genet, 2008. 9: p. 71-86. 43. Berg, J.S., et al., Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med, 2007. 9(7): p. 427-41. 44. Potocki, L., et al., Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet, 2007. 80(4): p. 633-49. 45. Yobb, T.M., et al., Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet, 2005. 76(5): p. 865-76. 46. Brunetti-Pierri, N., et al., Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet, 2008. 40(12): p. 1466-71. 47. Van der Aa, N., et al., Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur J Med Genet, 2009. 52(2-3): p. 94-100. 48. Hassed, S.J., et al., A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome. Clin Genet, 2004. 65(5): p. 400-4. 49. Potocki, L., et al., Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet, 2000. 24(1): p. 84-7. 50. de Vries, B.B., et al., Diagnostic genome profiling in mental retardation. Am J Hum Genet, 2005. 77(4): p. 606-16. |
Shortened but otherwise nearly identical. The list of references has been shortened, too, but here also copying has taken place (detectable by the placement of the year - which this time is not right behind the authors' names - and the usage of "p." in front of the pagenumbers, which is not done by Mmu in general). Nothing has been marked as a citation. |
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| [2.] Mmu/Fragment 011 15 - Diskussion Zuletzt bearbeitet: 2014-12-16 09:28:15 Singulus | Bejjani and Shaffer 2006, Fragment, Gesichtet, Mmu, SMWFragment, Schutzlevel sysop, Verschleierung |
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| Untersuchte Arbeit: Seite: 11, Zeilen: 15-16, 20-32 |
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| 1.3.4 Identifying the genomic lesions in known conditions
The high resolution afforded by array CGH has been used to define candidate regions for putative genes responsible for human genetic diseases. [...] Vissers and colleagues (Vissers 2004) hybridized cell lines from two individuals with CHARGE syndrome onto a genome-wide array with a 1Mb resolution. The authors narrowed a candidate region for CHARGE syndrome on 8q12 based on data from two individuals, one with a ~5 Mb deletion and another with a more complex rearrangement comprising two deletions that overlapped that of the first deletion subject. These results allowed the authors to focus on only nine genes in the region and detect heterozygous mutations in the gene CHD7, which was eventually shown to be the gene for CHARGE syndrome. The high resolution of that array was crucial in refining the critical region for this disease and in reducing the number of candidate genes to be investigated further. 82. Vissers LE, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet. 2004 Sep;36(9):955-7. |
The high resolution afforded by array CGH has been used to define candidate regions for putative genes responsible for human genetic diseases. For example, Vissers
et al9 hybridized cell lines from two individuals with CHARGE syndrome onto a genome-wide array with a 1-Mb resolution. The authors used a 918-BAC tiling resolution array to narrow a candidate region for CHARGE syndrome on 8q12 based on data from two individuals, one with a ~5-Mb deletion and another with a more complex rearrangement comprising two deletions that overlapped that of the first deletion subject. These results allowed the authors to focus on only nine genes in the region and detect heterozygous mutations in the gene CHD7, which was eventually shown to be the gene for CHARGE syndrome.9 The high resolution of that array was crucial in refining the critical region for this disease and in reducing the number of candidate genes to be investigated further. 9. Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG: Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 2004, 36:955–957 |
Nothing has been marked as a citation. |
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