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 .
- Author:
Walid AL-ACHKAR
;
Faten MOASSASS
;
Ayman AL-ABLOG
;
Thomas LIEHR
;
Xiaobo FAN
;
Abdulsamad WAFA
- Publication Type:Case Reports
- MeSH:
Abortion, Habitual;
genetics;
Azoospermia;
genetics;
Chromosome Aberrations;
Chromosomes, Human, Pair 5;
Female;
Fetal Death;
etiology;
Homozygote;
Humans;
Male;
Methylenetetrahydrofolate Reductase (NADPH2);
genetics;
Polymorphism, Genetic;
Pregnancy;
Translocation, Genetic;
Trisomy
- From:
National Journal of Andrology
2015;21(3):219-224
- CountryChina
- Language:English
-
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.
