Elationship between abnormal karyotypes as chromosomal variants and recurrent pregnancy loss or infertility

Maryam Moshfeghi,1,*



although polymorphic variations are identified to happen in the common people ,but all experts are thought to have no affect on phenotype and this population have normal appearance. on the other hand, these variants have newly been reported in infertile and subfertile individuals couples with upper frequencies and with higher prevalence in recurrent pregnancy loss.one of this type is polymorphic variations on the long arms of chromosomes 1 ,about the length of the centromeric heterochromatin. (1qh+)


This study was a prospective study of the data of 140 infertile couples that recruited one after the other to infertility clinic. we had also, a group of 110 men and women as control group that had been done karyotype for other reason and recruited in our study without history of reproductive failure.then we compare their karyotypes.


The most frequent abnormality was klinefelter syndrome (n=4 ,2.8%). after that 46,xy,1qh(+) was the most common autosomal abnormality ( n=8,5.7%) . all of control group had normal assay.


In couples with normal variant autosomal abnormality and normal phenotypes it is important to pay attention about role of these little abnormality in reproductive out come and explain to parents.


Chromosomal variations; infertility; pregnancy loss