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Titolo:
Numerical chromosome abnormalities in the spermatozoa of the fathers of children with trisomy 21 of paternal origin: generalised tendency to meiotic non-disjunction
Autore:
Soares, SR; Templado, C; Blanco, J; Egozcue, J; Vidal, F;
Indirizzi:
Univ Autonoma Barcelona, Fac Ciencias, Unitat Biol Cellular, Bellaterra 08193, Spain Univ Autonoma Barcelona Bellaterra Spain 08193 , Bellaterra 08193, Spain Univ Autonoma Barcelona, Fac Med, Unitat Biol Cellular, Bellaterra 08193, Spain Univ Autonoma Barcelona Bellaterra Spain 08193 , Bellaterra 08193, Spain
Titolo Testata:
HUMAN GENETICS
fascicolo: 2, volume: 108, anno: 2001,
pagine: 134 - 139
SICI:
0340-6717(200102)108:2<134:NCAITS>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
IN-SITU HYBRIDIZATION; HUMAN SPERM NUCLEI; MALE-INFERTILITY; MULTICOLOR FISH; SEX-CHROMOSOME; DOWN-SYNDROME; MATERNAL AGE; ANEUPLOIDY; FLUORESCENCE; NONDISJUNCTION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
46
Recensione:
Indirizzi per estratti:
Indirizzo: Vidal, F Univ Autonoma Barcelona, Fac Ciencias, Unitat Biol Cellular, Bellaterra 08193, Spain Univ Autonoma Barcelona Bellaterra Spain 08193 rra 08193, Spain
Citazione:
S.R. Soares et al., "Numerical chromosome abnormalities in the spermatozoa of the fathers of children with trisomy 21 of paternal origin: generalised tendency to meiotic non-disjunction", HUM GENET, 108(2), 2001, pp. 134-139

Abstract

The purpose of this study was the evaluation of aneuploidy frequencies in the spermatozoa of two fathers (DP-4 and DP-5) who had children with Down syndrome (DS) of paternal origin and in whom a previous sperm analysis by fluoresence in situ hybridisation (FISH) had suggested a generalised tendencyto meiotic non-disjunction. Sperm samples were simultaneously hybridised with FISH probes for chromosomes 4, 13 and 22. Disomy frequencies for each of the chromosomes and diploidy frequencies were compared with data obtainedfrom nine control donors. Both DS fathers had a statistically significant increase in the frequency of disomy for chromosomes 13 and 22. DP-5 also had an increased frequency of diploid spermatozoa. Our data suggest that the two DS fathers have a generalised susceptibility to meiotic non-disjunctionand that acrocentric chromosomes seem to be more sensitive to such disturbance in the meiotic process.

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Documento generato il 01/10/20 alle ore 14:10:03