نتایج جستجو برای: tetrasomy
تعداد نتایج: 240 فیلتر نتایج به سال:
A dysmorphic patient was shown to carry a small supernumerary marker chromosome. Multicolor, centromere-multicolor and regular FISH experiments proved the marker to be an analphoid 12pter derived isochromosome. Microdissection of the marker followed by reverse painting and array CGH analysis showed that the isochromosome contains approximately 6 Mb of 12pter-12p13.31 derived sequence. This is o...
associated with advanced parental age' and may arise from unequal crossing over during gametogenesis. We are unaware of any instance ofrecurrence or inheritance of an autosomal direct duplication. Two inherited duplications of the X chromosome have been reported, but with minor or no physical effects in the carrier females.2 3The risk of recurrence is probably low but unknown and therefore ante...
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