In:
LaboratoriumsMedizin, Walter de Gruyter GmbH, Vol. 32, No. 5 ( 2008-09-01), p. ---
Abstract:
Array CGH (Comparative Genomic Hybridisation) analysis has become an essential part of the diagnostic work-up of mental retardation in children. Using BAC- (Bacterial Artificial Chromosome) array CGH, a follow-up examination on chromosomally inconspicuous children with mental retardation (n=194) revealed in 20 patients (10.4%) a chromosomal imbalance as the cause of retardation. In a small pilot study on ten patients, we were able to demonstrate the benefit of applying a second, oligonucleotide-based array CGH platform as a reliable and rapid validation tool for ambiguous CGH results, in particular, if duplications were suspected (cross validation). Based on our own experience and that of other groups, a stepwise approach for the diagnosis of mental retardation in children involving a combination of BAC- and oligonucleotide array CGH as well as fluorescence in situ hybridisation (FISH) is recommended.
Type of Medium:
Online Resource
ISSN:
1439-0477
,
0342-3026
DOI:
10.1515/JLM.2008.048et
Language:
English
Publisher:
Walter de Gruyter GmbH
Publication Date:
2008
detail.hit.zdb_id:
2081704-6
detail.hit.zdb_id:
2909042-8
SSG:
15,3
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