Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

BACKGROUND: Subtelomere fluorescence in situ hybridisation (FISH) analysis has increasingly been used as an adjunct to routine cytogenetic testing in order to detect small rearrangements. Previous reports have estimated an overall abnormality rate of 6%, with a range of 2–29% because of different in...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Ravnan, J B, Tepperberg, J H, Papenhausen, P, Lamb, A N, Hedrick, J, Eash, D, Ledbetter, D H, Martin, C L
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Group 2006
Pynciau:
Original Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564531/
https://ncbi.nlm.nih.gov/pubmed/16199540
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.036350
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