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Typus
KomplettPlagiat
Bearbeiter
Graf Isolan
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Untersuchte Arbeit:
Seite: 10, Zeilen: 1-9
Quelle: Shinawi and Cheung 2008
Seite(n): 765, Zeilen: right col. 1-11
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

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(Graf Isolan), SleepyHollow02

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