科研之友
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摘要
Of the various mechanisms of formation of uniparental disomy (UPD) discussed in the literature, the mechanism of trisomy rescue is mostly prone to mosaicism from a trisomy cell line and from a disomy 46, XN uniparental cell line. Therefore, low level or undetected mosaicism has been assumed for a significant number of UPD cases. The clinical consequences of trisomy/UPD mosaicism probably depend on the chromosome involved and the proportional content in individual tissues. As the trisomy cell line of some mosaics might have a disadvantage in biological selection it might not be detected in routine lymphocyte investigations. For evaluation of the clinical relevance in the case of an imprinted chromosome the associated imprinting disorder must also be considered. In a postnatal setting analysis of UPD is indicated in the case of clinical, cytogenetic and molecular data. In the prenatal setting genetic counseling of the parents should be offered prior to any laboratory testing. In total, the impact of mosaicism associated with UPD has to consider the affected chromosome, the associated phenotype, the mechanism of formation and the laboratory method used.
- 出版日期2014-11
