ArticleAmerican journal of human genetics1998
Chromosome 21 disomy in the spermatozoa of the fathers of children with trisomy 21, in a population with a high prevalence of Down syndrome: increased incidence in cases of paternal origin.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 159 citations in OpenAlex.
- Quasi-randomized pilot clinical trial comparing the use of annexin columns in patients with abnormal sperm FISH undergoing IVF techniques.Scientific reports · 2025Trial
- Comparative Analysis of Fluorescence In Situ Hybridization and Next-Generation Sequencing in Sperm Evaluation: Implications for Preimplantation Genetic Testing and Male Infertility.International journal of molecular sciences · 2024Review
- Evidence for nonhomologous meiotic coorientation in man.Journal of human genetics · 2023Article
- Comprehensive chromosome FISH assessment of sperm aneuploidy in normozoospermic males.Journal of assisted reproduction and genetics · 2022Article
- Fluorescent in situ hybridization of human sperm: diagnostics, indications, and therapeutic implications.Fertility and sterility · 2014Article
- Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers.Molecular cytogenetics · 2014Article
- Chromosomal disorders and male infertility.Asian journal of andrology · 2012Review
- The use of fluorescent in situ hybridization in male infertility.Therapeutic advances in urology · 2010Article
- On the paternal origin of trisomy 21 Down syndrome.Molecular cytogenetics · 2010Article
- Semen analysis in 21st century medicine: the need for sperm function testing.Asian journal of andrology · 2010Article
- Off to a good start: the influence of pre- and periconceptional exposures, parental fertility, and nutrition on children's health.Environmental health perspectives · 2004Review
- Stable variants of sperm aneuploidy among healthy men show associations between germinal and somatic aneuploidy.American journal of human genetics · 2002Article
- Cytogenetic determinants of male fertility.Human reproduction updateReview
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Between April 1991 and December 1994, epidemiological studies detected a population with a high prevalence of Down syndrome in El Vallès, Spain. Parallel double studies were carried out to determine the parental and the meiotic origins of the trisomy 21, by use of DNA polymorphisms, and to establish the incidence of disomy 21 in the spermatozoa of the fathers of affected children, by use of multicolor FISH. Results show that the overall incidence of chromosome 21 disomy in the fathers of affected children was not significantly different from that in the control population (0.31% vs. 0.37%). However, analysis of individual data demonstrates that two cases (DP-4 and DP-5) with significant increases of disomy 21 (0. 75% and 0.78% vs. 0.37%) correspond to the fathers of the two individuals with Down syndrome of paternal origin. DP-5 also had a significant increase of sex-chromosome disomies (0.69% vs. 0.37%) and of diploid spermatozoa (1.13% vs. 0.24%).
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