Case PresentationĪn 18-year-old female presented with a history of primary amenorrhea. Here we report a familial case of Robertsonian translocation, in which the proband was referred because of primary amenorrhea. Some carriers can also face problems related to reduced fertility, unfavorable pregnancy outcomes like spontaneous abortions, stillbirths, offspring with intellectual disabilities, and uniparental disomy-related complications. Carriers of rob(13 14) are phenotypically normal but there is an increased risk that they can produce unbalanced gametes that will result in monosomic or trisomic fetuses. The most common form of Robertsonian translocations is between chromosomes 13 and 14, which accounts for approximately 75% of all translocations. The translocation can thus be passed through several generations without detection. Many carriers never learn about their chromosomal rearrangement since carriers typically exhibit no negative health consequences or reduced life span. The individual who has a balanced translocation is referred to as a Robertsonian translocation carrier. It results from the breakage of two acrocentric chromosomes at or close to their centromeres, with a subsequent fusion of the long arms to form one metacentric chromosome. A Robertsonian translocation involves only the acrocentric chromosomes (13, 14, 15, 21, and 22). One in 1,000 healthy individuals is thought to carry a Robertsonian translocation inherited from one of the parents with a normal phenotype. Robertsonian (rob) translocation is the most common form of structural chromosomal abnormality or rearrangement.
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