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OverviewA dysmorphia case of, developmental delay, growth retardation and having normal standard chromosomal karyotype was selected to study. An (aCGH) micro -array was performed and indicated that this patient has a hemizygous telomeric terminal deletion at the tip of the chromosome 12q starting from 12q24.31 and extending to the end of the q arm. Besides this large deletion one novel and seven previously reported copy number variations throughout the whole genome were identified.Confirmatory Real Time PCR and MLPA experiments were performed to validate the aCGH results in the region. These experiments established the presence of the deletion. To further validate and physically show the deletion a FISH assay was also performed on the interphase nuclei and metaphase spreads. These results indicated the presence of mosaicism in the labelled nuclei and spreads. Full Product DetailsAuthor: Ola El-Habit , Namik Kaya , Jawaher Ahmad Al-ZahraniPublisher: LAP Lambert Academic Publishing Imprint: LAP Lambert Academic Publishing Dimensions: Width: 15.20cm , Height: 0.80cm , Length: 22.90cm Weight: 0.204kg ISBN: 9783659414329ISBN 10: 3659414328 Pages: 132 Publication Date: 26 June 2013 Audience: General/trade , General Format: Paperback Publisher's Status: Active Availability: In stock  We have confirmation that this item is in stock with the supplier. It will be ordered in for you and dispatched immediately. Table of ContentsReviewsAuthor InformationTab Content 6Author Website:Countries AvailableAll regions |
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