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Karyotype alterations

It is the diagnostic test that studies the number, size and structure of the chromosomes that make up each of the cells in a person and it is carried out by a blood test.
The human karyotype presents 23 pairs of chromosomes (46 chromosomes in total), amongst which there is a pair that determines sex, XX for women and XY for men.

A certain percentage of the population presents karyotype anomalies (translocations, inversions, deletions, etc...) which usually go unnoticed. These alterations become apparent when the couple wishes to have children and either sterility, repeat spontaneous abortions, or the birth of an affected child.

In these cases it is necessary to study these embryos to be able to identify those that are chromosomally normal. This is carried out by an In Vitro Fertilization cycle with Preimplantation Genetic Diagnosis.

 

 
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