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New insights into the pathogenic mechanisms associated with CNVs: duplication of 17p13.3, mirror effect in 16p11.2 and recessive phenotype in 22q11.22

von Dott. Mafalda Mucciolo

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[1.] Mmu/Fragment 010 01 - Diskussion
Zuletzt bearbeitet: 2014-11-18 19:15:30 Singulus
Fragment, Gesichtet, KomplettPlagiat, Mmu, SMWFragment, Schutzlevel sysop, Shinawi and Cheung 2008

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1.3.1 Discovering new syndromes

Deletion and duplication syndromes represent recurrent chromosomal abnormalities that are associated with distinct phenotypes. These microdeletions/microduplications often occur between low copy repeats (LCRs) and are commonly because of non-allelic homologous recombination (NAHR) events (Lupski 1998). The detection of a de novo genomic imbalance in a single patient does not prove pathogenicity. Only the identification of similar genomic imbalances with a recognizable phenotype can help clarify the role of these genomic changes in causing the specific clinical features and will ultimately define a genetic syndrome.


45. Lupski JR. 1998. Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14:417.

Identification of new syndromes by aCGH

Deletion and duplication syndromes represent recurrent chromosomal abnormalities that are associated with distinct phenotypes. These microdeletions/microduplications often occur between low copy repeats (LCRs) and are commonly because of nonallelic homologous recombination (NAHR) events [37]. The detection of a de novo genomic imbalance in a single patient does not prove pathogenicity. Only the identification of similar genomic imbalances with a recognizable phenotype can help clarify the role of these genomic changes in causing the specific clinical features and will ultimately define a genetic syndrome.


37 Lupski, J.R. (1998) Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 14, 417–422

Anmerkungen

Nothing has been marked as a citation. The source is not given.

Sichter
(Graf Isolan), SleepyHollow02

[2.] Mmu/Fragment 010 10 - Diskussion
Zuletzt bearbeitet: 2014-12-22 16:57:34 Hindemith
Fragment, Gesichtet, KomplettPlagiat, Mmu, Papa 2010, SMWFragment, Schutzlevel sysop

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Therefore, the application of aCGH has created a paradigm shift in genetics that has moved the description and discovery of genetic conditions from the "phenotype-first" approach, in which patients exhibiting similar clinical features are identified prior to the discovery of an underlying aetiology, to a "genotype-first" approach, in which a collection of individuals with similar copy-number imbalances can be examined for common clinical features (Neill 2010).

56. Neill N.J., et al., Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH. Mol Cytogenet, 2010. 3: p. 11.

Furthermore, the application of aCGH has created a paradigm shift in genetics that has moved the description and discovery of genetic conditions from the "phenotype-first" approach, in which patients exhibiting similar clinical features are identified prior to the discovery of an underlying etiology, to a "genotype-first" approach, in which a collection of individuals with similar copy-number imbalances can be examined for common clinical features. [38]

38. Neill, N.J., et al., Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH. Mol Cytogenet, 2010. 3: p. 11.

Anmerkungen

Nearly identical with identical reference. Nothing has been marked as a citation.

The text can also be found in the source given: see Mmu/Fragment_010_10b

Sichter
(Graf Isolan), SleepyHollow02

[3.] Mmu/Fragment 010 22 - Diskussion
Zuletzt bearbeitet: 2014-12-16 09:21:36 Singulus
Fragment, Gesichtet, KomplettPlagiat, Mmu, Papa 2010, SMWFragment, Schutzlevel sysop

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A more complete understanding of the full clinical spectrum of these disorders will be achieved as the use of aCGH in the clinic becomes more prevalent and as correlations of these clinical findings with the genomic lesions are made. A more complete understanding of the full clinical spectrum of these disorders will be achieved as the use of aCGH in the clinic becomes more prevalent and as correlations of these clinical findings with the genomic lesions are made.
Anmerkungen

Identical. Nothing has been marked as a citation.

Sichter
(Graf Isolan), SleepyHollow02


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