Approximately 1 in 500 persons in the general population carry a chromosome rearrangement. These individuals usually have a personal history or a family member with infertility, multiple miscarriages, stillbirths, or a child with a chromosome abnormality. Chromosome rearrangements are associated with a wide range of phenotype in the adult population.
Chromosome rearrangements like Balanced Translocations are more common amongst infertility patients as compared to the general population.
Diagnosis of disorders resulting from chromosome abnormalities requires cytogenetic testing to identify the cause of the disorder. This testing is available for adults, stillbirth, products of conception, prenatal diagnosis from amniocentesis, chorionic villi and cord blood samples.
Chromosome abnormalities are detected by cytogenetic testing which includes standard karyotype analysis. Karyotype analysis examines the number and the structure of the chromosomes in the cells.