Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers

DiGeorge/velocardiofacial syndrome (DGS/VCFS) is the most common deletion syndrome in humans. Low copy repeats flanking the 22q11.2 region confer a substrate for non-allelic homologous recombination (NAHR) events leading to rearrangements. This study sought to identify DGS/VCFS fathers with increase...

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Detalhes bibliográficos
Autores: Vergés, Laia, Molina, Òscar, Geán, Esther, Vidal, Francesca, Blanco, J. (Joan)
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2014
País:España
Recursos:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/218093
Acesso em linha:https://hdl.handle.net/2445/218093
Access Level:acceso abierto
Palavra-chave:Anomalies cromosòmiques
Seqüència de nucleòtids
Espermatozoides
Chromosome abnormalities
Nucleotide sequence
Spermatozoa
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spelling Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathersVergés, LaiaMolina, ÒscarGeán, EstherVidal, FrancescaBlanco, J. (Joan)Anomalies cromosòmiquesSeqüència de nucleòtidsEspermatozoidesChromosome abnormalitiesNucleotide sequenceSpermatozoaDiGeorge/velocardiofacial syndrome (DGS/VCFS) is the most common deletion syndrome in humans. Low copy repeats flanking the 22q11.2 region confer a substrate for non-allelic homologous recombination (NAHR) events leading to rearrangements. This study sought to identify DGS/VCFS fathers with increased susceptibility to deletions and duplications at the 22q11.2 region in spermatozoa and to assess the particular contribution of intra-chromatid and/or inter-chromatid NAHR. Semen samples from nine DGS/VCFS fathers were analyzed by triple-color FISH using a probe combination that discriminated between normal, deleted and duplicated genotypes. Microsatellite analysis were performed in the parents and the affected children to determine the parental origin of the deleted chromosome 22. Results: A significant increase in 22q11.2 deletions was observed in the sperm of two out of nine DGS/VCFS fathers (odds ratio 2.03-fold, P < 0.01), and in both cases the deletion in the offspring was transmitted by the father. Patients with significant increases in sperm anomalies presented a disturbed deletion:duplication 1:1 ratio (P < 0.01). Conclusions: Altogether, results support that intra-chromatid NAHR is the mechanism responsible for the higher rate of sperm deletions, which is directly related to the transmission of the deleted chromosome 22 to offspring. Accordingly, the screening of sperm anomalies in the 22q11.2 region should be taken into account in the genetic counseling of DGS/VCFS families.BioMed Central2025202520142025info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion9 p.application/pdfhttps://hdl.handle.net/2445/218093Articles publicats en revistes (Ciències Fisiològiques)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a:https://doi.org/10.1186/s13039-014-0086-3Molecular Cytogenetics, 2014, num.86https://doi.org/10.1186/s13039-014-0086-3cc by (c) Vergés, Laia et al., 2014https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:2445/2180932026-05-29T05:05:01Z
dc.title.none.fl_str_mv Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers
title Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers
spellingShingle Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers
Vergés, Laia
Anomalies cromosòmiques
Seqüència de nucleòtids
Espermatozoides
Chromosome abnormalities
Nucleotide sequence
Spermatozoa
title_short Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers
title_full Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers
title_fullStr Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers
title_full_unstemmed Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers
title_sort Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers
dc.creator.none.fl_str_mv Vergés, Laia
Molina, Òscar
Geán, Esther
Vidal, Francesca
Blanco, J. (Joan)
author Vergés, Laia
author_facet Vergés, Laia
Molina, Òscar
Geán, Esther
Vidal, Francesca
Blanco, J. (Joan)
author_role author
author2 Molina, Òscar
Geán, Esther
Vidal, Francesca
Blanco, J. (Joan)
author2_role author
author
author
author
dc.subject.none.fl_str_mv Anomalies cromosòmiques
Seqüència de nucleòtids
Espermatozoides
Chromosome abnormalities
Nucleotide sequence
Spermatozoa
topic Anomalies cromosòmiques
Seqüència de nucleòtids
Espermatozoides
Chromosome abnormalities
Nucleotide sequence
Spermatozoa
description DiGeorge/velocardiofacial syndrome (DGS/VCFS) is the most common deletion syndrome in humans. Low copy repeats flanking the 22q11.2 region confer a substrate for non-allelic homologous recombination (NAHR) events leading to rearrangements. This study sought to identify DGS/VCFS fathers with increased susceptibility to deletions and duplications at the 22q11.2 region in spermatozoa and to assess the particular contribution of intra-chromatid and/or inter-chromatid NAHR. Semen samples from nine DGS/VCFS fathers were analyzed by triple-color FISH using a probe combination that discriminated between normal, deleted and duplicated genotypes. Microsatellite analysis were performed in the parents and the affected children to determine the parental origin of the deleted chromosome 22. Results: A significant increase in 22q11.2 deletions was observed in the sperm of two out of nine DGS/VCFS fathers (odds ratio 2.03-fold, P < 0.01), and in both cases the deletion in the offspring was transmitted by the father. Patients with significant increases in sperm anomalies presented a disturbed deletion:duplication 1:1 ratio (P < 0.01). Conclusions: Altogether, results support that intra-chromatid NAHR is the mechanism responsible for the higher rate of sperm deletions, which is directly related to the transmission of the deleted chromosome 22 to offspring. Accordingly, the screening of sperm anomalies in the 22q11.2 region should be taken into account in the genetic counseling of DGS/VCFS families.
publishDate 2014
dc.date.none.fl_str_mv 2014
2025
2025
2025
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/218093
url https://hdl.handle.net/2445/218093
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a:https://doi.org/10.1186/s13039-014-0086-3
Molecular Cytogenetics, 2014, num.86
https://doi.org/10.1186/s13039-014-0086-3
dc.rights.none.fl_str_mv cc by (c) Vergés, Laia et al., 2014
https://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc by (c) Vergés, Laia et al., 2014
https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 9 p.
application/pdf
dc.publisher.none.fl_str_mv BioMed Central
publisher.none.fl_str_mv BioMed Central
dc.source.none.fl_str_mv Articles publicats en revistes (Ciències Fisiològiques)
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.812455

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