Phenotypic manifestations of copy number variation in chromosome 16p13.11
نویسندگان
چکیده
منابع مشابه
Chromosome Number Variation in Iranian Populations of Acorus calamus
Different ploidy levels, diploid (2n=2x=24) to hexaploid (2n=6x=72) have been reported for Acorus calamus, a perennial medicinal plant. According to available information, there is a significant relationship between the ploidy level and essential oil compositions and medicinal properties of this important genetic resource. However, there is no information about the chromosome number of A. calam...
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Background: Baculoviral inhibitor of apoptosis repeat-containing 5 (BIRC5) gene is an inhibitor of apoptosis that expresses in human embryonic tissues but it is absent in most healthy adult tissues. The copy number of BIRC5 has been indicated to be highly increased in tumor tissues; however, its association with the age of onset in breast cancer is not well understood. Methods: Forty tumor tiss...
متن کاملINVITED COMMENT Linking Chromosome Abnormality and Copy Number Variation
Nine out of 10 people has a chromosome copy number variation (CNV) of >1,000 bp of DNA. In some cases they are inconsequential, in other cases the variations cause disease or disability, and in most cases the relevance has not been elucidated. Several studies describe CNVs as ‘‘normal’’ biological variants while other studies suggest that CNVsmaybe associated with developmental disability. A co...
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Clinical and electrophysiological investigations and nerve biopsies were carried out on 61 patients shown to have a chromosome 17p11.2 duplication (hereditary motor and sensory neuropathy-HMSN Ia). Of these, 50 showed a Charcot-Marie-Tooth (CMT) phenotype and eight could be classified as having the Roussy-Lévy syndrome. Of the patients with a CMT phenotype, three had associated pyramidal signs ...
متن کاملbirc5 genomic copy number variation in early-onset breast cancer
background: baculoviral inhibitor of apoptosis repeat-containing 5 (birc5) gene is an inhibitor of apoptosis that expresses in human embryonic tissues but it is absent in most healthy adult tissues. the copy number of birc5 has been indicated to be highly increased in tumor tissues; however, its association with the age of onset in breast cancer is not well understood. methods: forty tumor tiss...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2010
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2010.184