染色体易位
核型
衍生染色体
三体
生物
染色体重排
减数分裂
部分三体性
遗传学
染色体
分子生物学
基因
作者
Zafer Çetin,Ercan Mıhçı,İbrahim Keser,Kami̇l Karaali̇,Sibel Berker,Güven Lüleci
出处
期刊:PubMed
日期:2012-01-01
卷期号:23 (2): 239-47
摘要
We report, a newborn presenting multiple congenital abnormalities with karyotype; 47,XY,der(7)t(6;7)(pter-p23::p15-->qter),+der(9)t(7;9)(pter-->p15::q21.2--> pter)t(6;7;9)(p23;p15;q21.2)mat[20]. The mother and her phenotypically normal daughter were carriers of a complex chromosomal rearrangement with karyotypes; 46,XX,t(6;7;9)(p23;p15;q21.2)[20]. Paternal chromosomes were normal. In our case the extra derivative chromosome was the result of a 4:2 segregation of the chromosomes involved in translocation during oogenesis. Double partial trisomy in newborns resulting from 4:2 segregation is a rare event, and double partial trisomies of the 6p23-pter and trisomy 9pter-q22 regions have not reported to date.
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