Clinical features of carriers of reciprocal chromosomal translocations involving chromosome 2: report of nine cases and review of the literature
Int. braz. j. urol
; 44(4): 785-793, July-Aug. 2018. tab
Artigo
em Inglês
| LILACS
| ID: biblio-954068
Biblioteca responsável:
BR1.1
ABSTRACT
ABSTRACT Objective:
To explore the clinical features of carriers of chromosome 2 translocations, enabling informed genetic counseling of these patients. Materials andMethods:
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.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Translocação Genética
/
Cromossomos Humanos Par 2
/
Infertilidade Masculina
Limite:
Feminino
/
Humanos
/
Masculino
/
Gravidez
Idioma:
Inglês
Revista:
Int. braz. j. urol
Assunto da revista:
Urologia
Ano de publicação:
2018
Tipo de documento:
Artigo
País de afiliação:
China
Instituição/País de afiliação:
Jilin University/CN