the simultaneous presence in an organism of two or more varieties of homotypic cells differing in genetic structure, or genotype, and (or) in their manifestation of genes in the phenotype. Thus, in mosaicism, characters that are usually mutually exclusive (sex characters, color, biochemical feature...
Genotype, Phenotype, and Karyotype Correlation in the XO Mouse Model of Turner Syndrome The murine model for Turner Syndrome is the XO mouse. Unlike their human counterparts, XO mice are typically fertile, and their lack of a second sex chromo... F.,J.,Probst,... - 《Journal of Heredity...
Sister chromatid exchange and lymphocyte proliferation in a Down syndrome mosaicHeidemann, A.; Schmalenberger, B.; Zankl, H.Clinical Genetics 23(2): 139-142 1983ISSN/ISBN: 0009-9163 PMID: 6220843 DOI: 10.1111/j.1399-0004.1983.tb01862.xAccession: 006422802...
摘要: Background: To carefully assess the phenotype and genotype of a patient with partial mosaic trisomy 8 with particular attention to ophthalmologic features.关键词: Accommodative esotropia agenesis of corpus callosum dysmorphism mosaic trisomy 8 ...
On the milder end of the spectrum, mosaicism can result in little if any phenotypic effects but increases the risk of transmitting a pathogenic genotype. In the middle of the spectrum, mosaicism has been implicated in reducing the phenotypic severity of genetic disease. In this review will ...
Only some specific sSMC-related syndromes have been identified, whereas the genotype–phenotype correlations of most sSMC cases are yet to be established [2]. Partial tetrasomy of chromosome arm 6p is extremely rare. To date, only one case with partial tetrasomy of distal 6p has been reported ...