Clinical features of carriers of reciprocal chromosomal translocations involving chromosome 2: report of nine cases and review of the literature
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | International Braz J Urol (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1677-55382018000400785 |
Resumo: | ABSTRACT Objective: To explore the clinical features of carriers of chromosome 2 translocations, enabling informed genetic counseling of these patients. Materials and Methods: Eighty-two male carriers of a translocation who were infertile or receiving fertility counseling were recruited. Cytogenetic analyses were performed using G-banding. A search of PubMed was performed to determine whether the identified translocations on chromosome 2 are involved in male infertility. The relationships of translocation breakpoints with male infertility and recurrent pregnancy loss were analyzed. Results: Of the 82 translocation carriers, 9 (11%) were carriers of a chromosome 2 translocation. Four cases had oligozoospermia or infertility, while five had normal semen. In an analysis of the literature, 55 patients who were carriers of chromosome 2 translocations were also reviewed. Breakpoints at 2p13 and 2q31 were observed in six patients each, and were the most common. Breakpoints at 2p23, 2p13, 2p11.2, 2q31, and 2q37 were associated to both pre-gestational and gestational infertility, while other breakpoints were associated with gestational infertility. Conclusions: All breakpoints at chromosome 2 were correlated with gestational infertility. Carriers of chromosome 2 translocations should therefore receive counseling to continue with natural conception and use of different technologies available via assisted reproductive technology, such as preimplantation genetic diagnosis. |
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Clinical features of carriers of reciprocal chromosomal translocations involving chromosome 2: report of nine cases and review of the literatureInfertilityMaleChromosomesHumanPair 2Genetic CounselingABSTRACT Objective: To explore the clinical features of carriers of chromosome 2 translocations, enabling informed genetic counseling of these patients. Materials and Methods: Eighty-two male carriers of a translocation who were infertile or receiving fertility counseling were recruited. Cytogenetic analyses were performed using G-banding. A search of PubMed was performed to determine whether the identified translocations on chromosome 2 are involved in male infertility. The relationships of translocation breakpoints with male infertility and recurrent pregnancy loss were analyzed. Results: Of the 82 translocation carriers, 9 (11%) were carriers of a chromosome 2 translocation. Four cases had oligozoospermia or infertility, while five had normal semen. In an analysis of the literature, 55 patients who were carriers of chromosome 2 translocations were also reviewed. Breakpoints at 2p13 and 2q31 were observed in six patients each, and were the most common. Breakpoints at 2p23, 2p13, 2p11.2, 2q31, and 2q37 were associated to both pre-gestational and gestational infertility, while other breakpoints were associated with gestational infertility. Conclusions: All breakpoints at chromosome 2 were correlated with gestational infertility. Carriers of chromosome 2 translocations should therefore receive counseling to continue with natural conception and use of different technologies available via assisted reproductive technology, such as preimplantation genetic diagnosis.Sociedade Brasileira de Urologia2018-08-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1677-55382018000400785International braz j urol v.44 n.4 2018reponame:International Braz J Urol (Online)instname:Sociedade Brasileira de Urologia (SBU)instacron:SBU10.1590/s1677-5538.ibju.2017.0233info:eu-repo/semantics/openAccessZhang,XinyueZhang,HongguoHu,CongWang,RuixueXi,QiLiu,Ruizhieng2018-08-08T00:00:00Zoai:scielo:S1677-55382018000400785Revistahttp://www.brazjurol.com.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||brazjurol@brazjurol.com.br1677-61191677-5538opendoar:2018-08-08T00:00International Braz J Urol (Online) - Sociedade Brasileira de Urologia (SBU)false |
dc.title.none.fl_str_mv |
Clinical features of carriers of reciprocal chromosomal translocations involving chromosome 2: report of nine cases and review of the literature |
title |
Clinical features of carriers of reciprocal chromosomal translocations involving chromosome 2: report of nine cases and review of the literature |
spellingShingle |
Clinical features of carriers of reciprocal chromosomal translocations involving chromosome 2: report of nine cases and review of the literature Zhang,Xinyue Infertility Male Chromosomes Human Pair 2 Genetic Counseling |
title_short |
Clinical features of carriers of reciprocal chromosomal translocations involving chromosome 2: report of nine cases and review of the literature |
title_full |
Clinical features of carriers of reciprocal chromosomal translocations involving chromosome 2: report of nine cases and review of the literature |
title_fullStr |
Clinical features of carriers of reciprocal chromosomal translocations involving chromosome 2: report of nine cases and review of the literature |
title_full_unstemmed |
Clinical features of carriers of reciprocal chromosomal translocations involving chromosome 2: report of nine cases and review of the literature |
title_sort |
Clinical features of carriers of reciprocal chromosomal translocations involving chromosome 2: report of nine cases and review of the literature |
author |
Zhang,Xinyue |
author_facet |
Zhang,Xinyue Zhang,Hongguo Hu,Cong Wang,Ruixue Xi,Qi Liu,Ruizhi |
author_role |
author |
author2 |
Zhang,Hongguo Hu,Cong Wang,Ruixue Xi,Qi Liu,Ruizhi |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Zhang,Xinyue Zhang,Hongguo Hu,Cong Wang,Ruixue Xi,Qi Liu,Ruizhi |
dc.subject.por.fl_str_mv |
Infertility Male Chromosomes Human Pair 2 Genetic Counseling |
topic |
Infertility Male Chromosomes Human Pair 2 Genetic Counseling |
description |
ABSTRACT Objective: To explore the clinical features of carriers of chromosome 2 translocations, enabling informed genetic counseling of these patients. Materials and Methods: Eighty-two male carriers of a translocation who were infertile or receiving fertility counseling were recruited. Cytogenetic analyses were performed using G-banding. A search of PubMed was performed to determine whether the identified translocations on chromosome 2 are involved in male infertility. The relationships of translocation breakpoints with male infertility and recurrent pregnancy loss were analyzed. Results: Of the 82 translocation carriers, 9 (11%) were carriers of a chromosome 2 translocation. Four cases had oligozoospermia or infertility, while five had normal semen. In an analysis of the literature, 55 patients who were carriers of chromosome 2 translocations were also reviewed. Breakpoints at 2p13 and 2q31 were observed in six patients each, and were the most common. Breakpoints at 2p23, 2p13, 2p11.2, 2q31, and 2q37 were associated to both pre-gestational and gestational infertility, while other breakpoints were associated with gestational infertility. Conclusions: All breakpoints at chromosome 2 were correlated with gestational infertility. Carriers of chromosome 2 translocations should therefore receive counseling to continue with natural conception and use of different technologies available via assisted reproductive technology, such as preimplantation genetic diagnosis. |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018-08-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1677-55382018000400785 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1677-55382018000400785 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/s1677-5538.ibju.2017.0233 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Urologia |
publisher.none.fl_str_mv |
Sociedade Brasileira de Urologia |
dc.source.none.fl_str_mv |
International braz j urol v.44 n.4 2018 reponame:International Braz J Urol (Online) instname:Sociedade Brasileira de Urologia (SBU) instacron:SBU |
instname_str |
Sociedade Brasileira de Urologia (SBU) |
instacron_str |
SBU |
institution |
SBU |
reponame_str |
International Braz J Urol (Online) |
collection |
International Braz J Urol (Online) |
repository.name.fl_str_mv |
International Braz J Urol (Online) - Sociedade Brasileira de Urologia (SBU) |
repository.mail.fl_str_mv |
||brazjurol@brazjurol.com.br |
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1750318076294856704 |