Chromosome 21 disomy in the spermatozoa of the fathers of children with trisomy 21, in a population with a high prevalence of dow syndrome: Increased incidence in cases of paternal origin

J. Blanco, E. Gabau, D. Gómez, N. Baena, M. Guitart, J. Egozcue, Francesca Vidal

Research output: Contribution to journalArticleResearchpeer-review

75 Citations (Scopus)

Abstract

Between April 1991 and December 1994, epidemiological studies detected a population with a high prevalence of Down syndrome in El Valles, 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%).
Original languageEnglish
Pages (from-to)1067-1072
JournalAmerican Journal of Human Genetics
Volume63
DOIs
Publication statusPublished - 1 Jan 1998

Fingerprint Dive into the research topics of 'Chromosome 21 disomy in the spermatozoa of the fathers of children with trisomy 21, in a population with a high prevalence of dow syndrome: Increased incidence in cases of paternal origin'. Together they form a unique fingerprint.

Cite this