Identification of CFTR rearrangements by a CGH locus specific array
نویسندگان
چکیده
منابع مشابه
Prenatal detection of unbalanced chromosomal rearrangements by array CGH.
BACKGROUND Karyotype analysis has been the standard method for prenatal cytogenetic diagnosis since the 1970s. Although highly reliable, the major limitation remains the requirement for cell culture, resulting in a delay of as much as 14 days to obtaining test results. Fluorescent in situ hybridisation (FISH) and quantitative fluorescent PCR (QF-PCR) rapidly detect common chromosomal abnormalit...
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*Corresponding author: Lucio Pastore, MD, PhD, CEINGEBiotecnologie Avanzate, Via Gaetano Salvatore 486, 80145, Naples, Italy, Phone: +39 081 3737885, Fax: +39 081 3737808, E-mail: [email protected]; and Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli “Federico II”, Naples, Italy Barbara Lombardo and Giuseppe Castaldo: Dipartimento di Medicina Molecolare e ...
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SUMMARY CGH-Explorer is a program for visualization and statistical analysis of microarray-based comparative genomic hybridization (array-CGH) data. The program has preprocessing facilities, tools for graphical exploration of individual arrays or groups of arrays, and tools for statistical identification of regions of amplification and deletion.
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We developed several FISH approaches to enable preimplantation genetic diagnosis of cancer predisposition syndromes. An overview of the applications and the results of those PGDs will be provided. In addition we developed several novel tools to genome wide screen for CNVs and SNPs in single cells. Those technologies are now being applied for polar body, blastomere and blastocyst screening for c...
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Background: Karyotype analysis has been the standard and reliable procedure for prenatal cytogenetic diagnosis since the 1970s. However, the major limitation remains requirement for cell culture, resulting in a delay of as much as 14 days to get the test results.CGH array technology has proven to be useful in detecting causative genomic imbalances or genetic mutations in as many as 15% of child...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2009
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(09)60063-1