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Untersuchte Arbeit:
Seite: 16, Zeilen: 4-7, 11 ff.
Quelle: Katzaki 2009
Seite(n): 21 f, Zeilen: 21: 9 ff.; 22: 1 ff.
"Recognizable syndromes" are recognizable because they exhibit, to the trained clinician, a constellation of signs and symptoms that arouse sufficient suspicion to cause the clinician to order a test that will confirm the clinical diagnosis. The advent of molecular tools such as aCGH, allows us to define the rearrangements in a more detailed and comprehensive manner. A report has highlighted the usefulness of aCGH to characterize the Angelman syndrome/Prader-Willi syndrome (AS/PWS) region. [15] This age-old pattern of medical practice creates a loop that includes the patient, the clinician, and the laboratory and, in doing so, reinforces these recognizable features, cements them to the syndrome, and makes the clinician more confident in his/her diagnostic skills. With the application of aCGH to individuals with nonspecific developmental delay (DD) and/or intellectual disability (ID), with or without dysmorphic features (DF), it is now clear that many recognizable microdeletions and microduplication syndromes have a much wider spectrum of clinical presentation than was previously appreciated. [39] [25] 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. Existing website resources such as DECIPHER (see 1.5). [40] Many recognizable microdeletion syndromes are caused by nonallelic homologous recombination (NAHR) mediated by flanking low-copy repeat (LCR) sequences. [41] Interchromosomal and interchromatid NAHR between LCRs in direct orientation result in reciprocal duplication and deletion, whereas intrachromatid NAHR only creates deletion.

25. Shaffer, L.G. and T.H. Bui, Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis. Am J Med Genet C Semin Med Genet, 2007. 145C(1): p. 87-98.

39. Krepischi-Santos, A.C., et al., Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations. Cytogenet Genome Res, 2006. 115(3-4): p. 254-61.

40. Firth, H.V., et al., DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet, 2009. 84(4): p. 524-33.

41. Gu, W., F. Zhang, and J.R. Lupski, Mechanisms for human genomic rearrangements. Pathogenetics, 2008. 1(1): p. 4.

"Recognizable syndromes" are recognizable because they exhibit, to the trained clinician, a constellation of signs and symptoms that arouse sufficient suspicion to cause the clinician to order a test that will confirm the clinical diagnosis. This age-old pattern of medical practice creates a loop that includes the patient, the clinician, and the laboratory and, in doing so, reinforces these recognizable features, cements them to the syndrome, and makes the clinician more confident in his/her diagnostic skills.

[...]

With the application of array-CGH to individuals with nonspecific developmental delay (DD) and/or mental retardation (MR), with or without dysmorphic features (DF), it is now clear that many recognizable microdeletions and microduplication syndromes have a much wider spectrum of clinical presentation than was previously appreciated.27,28

A more complete understanding of the full clinical spectrum of these disorders will be achieved as the use of array-CGH in the clinic becomes more

[page 22:]

prevalent and as correlations of these clinical findings with the genomic lesions are made. Existing website resources such as DECIPHER (DatabasE of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources; http://www.sanger.ac.uk! PostGenomics/decipherl) (Wellcome Trust Sanger Inst. 2007) may facilitate widespread appreciation of such phenotypic variability (see 1.5).32

1.3.2 Identifying the reciprocal products of known conditions.

Many recognizable microdeletion syndromes are caused by nonallelic homologous recombination (NAHR) mediated by flanking low-copy repeat (LCR) sequences.33 Interchromosomal and interchromatid NAHR between LCRs in direct orientation result in reciprocal duplication and deletion, whereas intrachromatid NAHR only creates deletion.33


27 Krepischi-Santos AC, Vianna-Morgante AM, Jehee FS et al: Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations. Cytogenet Genome Res 2006; 115: 254-261.

28 Shaffer LG, Bejjani BA, Torchia B, Kirkpatrick S, Coppinger J, Ballif BC: The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future. Am J Med Genet C Semin Med Genet 2007; 145C: 335-345.

32 Firth HV, Richards SM, Bevan AP et al: DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet 2009; 84: 524-533.

33 Gu W, Zhang F, Lupski JR: Mechanisms for human genomic rearrangements. Pathogenetics 2008; 1: 4.

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