Chromosomal aberration leads to recurrent pregnancy loss and partial trisomy of 5p12-15.3 in the offspring: report of a Syrian couple and review of the literature / 中华男科学杂志
National Journal of Andrology
;
(12): 219-224, 2015.
Artigo
em Inglês
| WPRIM
| ID: wpr-319516
ABSTRACT
Here we describe a Syrian couple having recurrent pregnancy loss in the first trimester, fetal malformations, and/or neonatal death. The father had a balanced chromosomal translocation t(5;15), an sY125 microdeletion of locus b in the azoospermia factor (AZF) gene, and an MTHFR C677T homozygous polymorphism with normal phenotype. Interestingly, his healthy wife had another MTHFR A1298C homozygous polymorphism. The couple experienced two pregnancy losses and had two stillborn children with severe malformations due to partial trisomy of the short arm of chromosome 5. The couple does not have any living offspring after 10 years of marriage.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Polimorfismo Genético
/
Translocação Genética
/
Trissomia
/
Cromossomos Humanos Par 5
/
Aborto Habitual
/
Aberrações Cromossômicas
/
Metilenotetra-Hidrofolato Redutase (NADPH2)
/
Azoospermia
/
Morte Fetal
/
Genética
Limite:
Feminino
/
Humanos
/
Masculino
/
Gravidez
Idioma:
Inglês
Revista:
National Journal of Andrology
Ano de publicação:
2015
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS