Rare Disorder Causing Infertility: Robertsonian Translocation 13:14

Robertsonian translocation is a chromosomal structural anomaly resulting in infertility and miscarriage. Robertsonian translocation includes balanced and imbalanced types. The balanced type presents a normal phenotype and the patient may have reproductive issues such as recurrent abortion and birth of neonates with chromosomal abnormalities. In unbalanced type, partial monosomy or trisomy will appear, which can cause miscarriage, and congenital and developmental disabilities may occur in surviving fetuses.

Case report: 

The present study reported a female infant with suspicious minor labial adhesion, and imbalanced adrenal hormones, who was found to be a 45xx (13; 14) (q10; q10) balanced Robertsonian translocation compatible to the normal female phenotype.

Therefore, it is recommended to the family for prenatal amniocentesis in each future pregnancy. As this translocation can be a reason for infertility, genetic counseling and karyotype analysis may be helpful in the assessment of infertile adults without other presentations except recurrent abortion in women and oligospermia in men.