Research The Formation Mechanisms Of Segmental And Complex Uniparental Disomy(UPD) And A Case Report Analysyis About UPD Which Result In An Embryonic Development Stops

Objective:1)Reviewed segmental and complex uniparental disomy (UPD)cases to deduce their mechanisms of formation.2)Report a case ofembryonic development stops with a full range of single diploid genetic,discussing the genetic counseling.Methods:1）Using keywords of UPD and uniparental to search pubmeddatabase,and analyze the literatures choosed to deduce the mechanisms offormation;2）Screening the embryonic villi and peripheral blood of theirparents by gene chip technology,then discussing the cause the geneticcounseling from the results.Results:1)After literature retrieval and filtering,9cases of segmentaluniparental disomy (UPD),22cases of translocation uniparental disomy(UPD),39cases of isochromosome uniparental disomy (UPD),21cases ofmodalities chromosome rearrangement uniparental disomy (UPD) areincluded; and speculate their mechanism according to the analysis of these cases.2)A full range of single diploid genetic to the embryonic and theparents are normal.Conclusion:1)Segmental and complex uniparental disomy (UPD) casesreviewing and analysissing is beneficial to predict disease mechanism,andprovide a reference for further biological research and clinical diagnosisdecision basis.2） According to the results of embryos and their parents bygene chip,It can be concluded that the UPD is caused by environment orabnormal meiosis（gene chip can not detect inversion, insert and unbalancedtranslocation）, they can have the next births after excluded environmentalfactors, and do early detection.