TY - JOUR
T1 - Interchromosomal effect leading to an increase in aneuploidy in sperm nuclei in a man heterozygous for pericentric inversion (inv 9) and C-heterochromatin
AU - Amiel, A.
AU - Sardos-Albertini, F.
AU - Fejgin, M. D.
AU - Sharony, R.
AU - Diukman, R.
AU - Bartoov, B.
PY - 2001
Y1 - 2001
N2 - 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 nondisjunction 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.
AB - 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 nondisjunction 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.
KW - Aneuploidy
KW - Disomy
KW - FISH
KW - Heterochromatin
KW - Interchromosomal effect
KW - Inversion (9)
UR - https://www.scopus.com/pages/publications/0035047313
U2 - 10.1007/s100380170073
DO - 10.1007/s100380170073
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C2 - 11355013
AN - SCOPUS:0035047313
SN - 1434-5161
VL - 46
SP - 245
EP - 250
JO - Journal of Human Genetics
JF - Journal of Human Genetics
IS - 5
ER -