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FISH for prevention of X-linked diseases

23 types of female chromosomes

23 types of female chromosomes

The FISH technique is used for embryo karyotyping for male inherited disease diagnosis. It offers sex determination of embryos, transfering only female embryos that are not at risk to be affected with X-linked diseases, such as Duchenne Muscular Dystrophy, Haemophilia, the Lesch-Nyhan syndrome and the Lowe syndrome.

We mention that:

  • In 2000 at our center, by using FISH- PGD, a mother who was a carrier of the Lowe syndrome affecting male offspring, gave birth to a healthy unaffected female child.
  • In 2001 at our center, by using FISH- PGD, we were able to determine an embryo’s sex , thus giving birth to a healthy female, whose mother was carrier of the Duchenne syndrome.