Acrocentric chromosome disomy is increased in spermatozoa from fathers of Turner syndrome patients

Citation
Sr. Soares et al., Acrocentric chromosome disomy is increased in spermatozoa from fathers of Turner syndrome patients, HUM GENET, 108(6), 2001, pp. 499-503
Citations number
40
Categorie Soggetti
Molecular Biology & Genetics
Journal title
HUMAN GENETICS
ISSN journal
03406717 → ACNP
Volume
108
Issue
6
Year of publication
2001
Pages
499 - 503
Database
ISI
SICI code
0340-6717(200106)108:6<499:ACDIII>2.0.ZU;2-9
Abstract
The aim of the present study was to investigate whether there was an increa se of aneuploidy in the sperm from fathers of Turner syndrome patients of p aternal origin who, in a previous study, showed an elevated incidence of XY meiotic nondisjunction. Sperm disomy frequencies for chromosomes 4, 13, 18 , 21 and 22 were assessed by fluorescence in situ hybridisation in four of these individuals. As a group, the Turner syndrome fathers showed a general increase in disomy frequencies for chromosomes 13, 21 and 22, with a stati stically significant increase in disomy frequencies for chromosomes 13 and 22 in one of the fathers and for chromosome 21 in two of them. Data from a previous work carried out by us in two fathers of Down syndrome patients of paternal origin also revealed increased sperm disomy frequencies for chrom osomes 13, 21 and 22. Pooled as one group, these six fathers of aneuploid o ffspring of paternal origin had a statistically significant increase in the frequency of nondisjunction for these chromosomes with respect to control individuals. Our findings indicate that there may be an association between fathering aneuploid offspring and increased frequencies of aneuploid sperm atozoa. Such increases do not seem to be restricted to the chromosome pair responsible for the aneuploid offspring. Acrocentric chromosomes and other chromosome pairs that usually show only one chiasma during meiosis seem to be more susceptible to malsegregation.