Interchromosomal effect leading to an increase in aneuploidy in sperm nuclei in a man heterozygous for pericentric inversion (inv 9) and C-heterochromatin
A. Amiel et al., Interchromosomal effect leading to an increase in aneuploidy in sperm nuclei in a man heterozygous for pericentric inversion (inv 9) and C-heterochromatin, J HUM GENET, 46(5), 2001, pp. 245-250
We describe a man with pericentric inversion 9 and constitutive heterochrom
atin, 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 chr
omosome 9 showed the highest disomy frequency. The probes of X and Y togeth
er showed the same disomy frequency as X and Y alone, which indicates the s
ame 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 we
ll known that the effect of inversion 9 with increased heterochromatin is h
ighly variable and may even vary in members of the same family.