Lesch-Nyhan Syndrome Script

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Lesch-Nyhan Syndrome Chloe: Hi Elizabeth I’m Chloe Steele, your genetic counselor. Obviously you are here about the health of your baby. I can see from your records that you carry the gene for a disease called Lesch-Nyhan Syndrome. This disease is also called H.G.P.R.T. or the X-linked uric aciduria enzyme defect. Do you have any questions before we begin? Elizabeth: Yes actually, how will this affect my baby? Chloe: Well, before I can explain how your baby may be affected I need you to have an understanding of the disease, so let’s start with the basic information. Elizabeth: Alright, what do I need to know? Chloe: First of all, Lesch-Nyhan Syndrome is primarily found in men. It is only found in 1 in every 38,000 individuals. Elizabeth: So, only 1 in every 38,000 people actually gets this disease, and they’re mostly men? Chloe: That’s right. Lesch-Nyhan Syndrome is caused by a mutation or change on your X chromosome. This change results in the absence of an enzyme called Hypoxanthine-guanine Phosphoribosyltransferase. This enzyme is needed to metabolize uric acid, and without this enzyme uric acid builds up in the central nervous system, kidneys, and other parts of the body. A woman has 2 X chromosomes. One of your X chromosomes carries the gene for Lesch-Nyhan Syndrome, but since you have 2, the disease doesn’t affect you. However the disease can be passed on to your children.**Get Karyotype** This is a karyotype, which is a picture of all of a person’s chromosomes. This specific karyotype is an example of a man with lesch-nyhan syndrome. Men primarily get the disease because they have only 1 X chromosome that they receive from their mother. If the mother is a carrier of the gene, there is a 50% chance that her son will have the infected gene. Elizabeth: So you’re saying that if I have a boy then there is a chance he won’t have it? Chloe: Yes, but there

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