Interchromosomal effect leading to an increase in aneuploidy in sperm nuclei in a man heterozygous for pericentric inversion (inv 9) and C-heterochromatin

被引:74
作者
Amiel, A [1 ]
Sardos-Albertini, F
Fejgin, MD
Sharony, R
Diukman, R
Bartoov, B
机构
[1] Meir Hosp, Genet Inst, IL-44281 Kefar Sava, Israel
[2] Lady Davies Carmel Med Ctr, Dept Obstet & Gynecol, Haifa, Israel
[3] Bar Ilan Univ, Fac Life Sci, Ramat Gan, Israel
关键词
interchromosomal effect; inversion (9); FISH; aneuploidy; disomy; heterochromatin;
D O I
10.1007/s100380170073
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We describe a man with pericentric inversion 9 and constitutive heterochromatin, and a high disomy rate in his sperm cells (with all probes analyzed). The disomy rate was estimated with the following probes: 8, 9. 18, X, and Y, and was significantly higher than that in control sperm cells, while chromosome 9 showed the highest disomy frequency. The probes of X and Y together showed the same disomy frequency as X and Y alone, which indicates the same non disjunction rate in the first meiotic division. We suggest that the interchromosomal effect found in this man differed from other findings in sperm cells of men carrying an inversion in terms of the difference in the length of the heterochromatin between the two chromosomes 9. Also, it is well known that the effect of inversion 9 with increased heterochromatin is highly variable and may even vary in members of the same family.
引用
收藏
页码:245 / 250
页数:6
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