Disomy 21 in spermatozoa and the paternal origin of trisomy 21 Down syndrome

详细信息    查看全文

• 作者：Erik Iwarsson ; Ulrik Kvist ; Maj A. Hultén
• 关键词：Trisomy 21 ; Down syndrome ; Spermatozoa ; Chromosome copy number ; Fluorescence in situ hybridisation (FISH) ; Disomy 21 ; Paternal origin
• 刊名：Molecular Cytogenetics
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：8
• 期：1
• 全文大小：616 KB
• 刊物主题：Cytogenetics; Molecular Medicine;
• 出版者：BioMed Central
• ISSN：1755-8166

文摘

Background Trisomy 21 Down syndrome is the most common genetic cause for congenital malformations and intellectual disability. It is well known that in the outstanding majority of cases the extra chromosome 21 originates from the mother but only in less than 10 % from the father. The mechanism underlying this striking difference in parental origin of Trisomy 21 Down syndrome is still unknown. However, it seems likely that the main reason is a much higher stringency in the elimination of any trisomy 21 cells during fetal testicular than ovarian development. We have here focussed attention on the paternal gametic output, i.e. the incidence of disomy 21 in spermatozoa.