Infertility is known to be associated with chromosomal aberrations. Here the author reviews hitherto yet published cases of infertility identified to be carriers of small supernumerary marker chromosomes (sSMC). According to the sSMC web page (http://ssmc-tl. com/Start.html) there are now 225 cases of sSMC detected and characterized for their chromosomal origin and genetic content in infertile but otherwise health persons. In 54% of the cases, sSMC originated from chromosome 15 or 14, and was parentally transmitted in over 50% of the infertile sSMC-carriers. To the best of the authors knowledge, this is the largest review of infertile sSMC-carriers ever done.
Chromosome Aberrations ; Genetic Markers ; Humans ; Infertility ; genetics

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.
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

No abstract available.
Ataxia Telangiectasia ; Burkitt Lymphoma ; Child ; Cytogenetics ; Humans ; Trisomy