Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

The underlying causes of learning disability and dysmorphic features in many patients remain unidentified despite extensive investigation. Routine karyotype analysis is not sensitive enough to detect subtle chromosome rearrangements (less than 5 Mb). The presence of subtle DNA copy number changes wa...

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Bibliographische Detailangaben
Hauptverfasser: Shaw-Smith, C, Redon, R, Rickman, L, Rio, M, Willatt, L, Fiegler, H, Firth, H, Sanlaville, D, Winter, R, Colleaux, L, Bobrow, M, Carter, N
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Group 2004
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735726/
https://ncbi.nlm.nih.gov/pubmed/15060094
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2003.017731
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