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Split hand/split foot malformation

 

Marketed By :  Südwestdeutscher Verlag für Hochschulschriften   Sold By :  Kamal Books International  
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  • Product Description
 

Split hand/split foot malformation (SHFM) is a mostly dominantly inherited congenital limb malformation. Until now, five genetic loci have been identified that contribute to the development of SHFM. Currently, TP63 mutation analysis (SHFM4) is the routine diagnostic test for SHFM. However, there are indications that the frequency of SHFM3 is substantially higher than that of SHFM4. So far, estimations of the frequency of the five known SHFM loci have not been made based exclusively on phenotype. In this study, 28 SHFM patients were analysed using array CGH, MLPA and qPCR to detect copy number variations at the five known genetic loci. TP63-positive patients were excluded. In our cohort, the frequency of SHFM3 was 25% (7/28). This result confirms our hypothesis that the frequency of SHFM3 in SHFM patients is substantially high and, in fact, about two times higher than the frequency of SHFM4, which is 10-15%. Therefore I recommend that in clinical practice patients with isolated SHFM should primarily be tested for copy number changes at the SHFM3 locus.

Product Specifications
SKU :COC93927
AuthorCharlotte Ockeloen
LanguageEnglish
BindingPaperback
Number of Pages68
Publishing Year2011-04-07T00:00:00.000
ISBN978-3838125541
Edition1 st
Book TypeClinical & internal medicine
Country of ManufactureIndia
Product BrandSüdwestdeutscher Verlag für Hochschulschriften
Product Packaging InfoBox
In The Box1 Piece
Product First Available On ClickOnCare.com2015-08-14 00:00:00