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Contenuto fornito da Pregnancy Pearls and Mean Ole Lion Media. Tutti i contenuti dei podcast, inclusi episodi, grafica e descrizioni dei podcast, vengono caricati e forniti direttamente da Pregnancy Pearls and Mean Ole Lion Media o dal partner della piattaforma podcast. Se ritieni che qualcuno stia utilizzando la tua opera protetta da copyright senza la tua autorizzazione, puoi seguire la procedura descritta qui https://it.player.fm/legal.
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Fragile X Premutation
Manage episode 373063079 series 3433987
Contenuto fornito da Pregnancy Pearls and Mean Ole Lion Media. Tutti i contenuti dei podcast, inclusi episodi, grafica e descrizioni dei podcast, vengono caricati e forniti direttamente da Pregnancy Pearls and Mean Ole Lion Media o dal partner della piattaforma podcast. Se ritieni che qualcuno stia utilizzando la tua opera protetta da copyright senza la tua autorizzazione, puoi seguire la procedura descritta qui https://it.player.fm/legal.
Everyone is offered a genetic screen called a carrier screening during pregnancy. The carrier screen detects if you are a carrier for 4 to 274 diseases, depending on the type of screen ordered. Well, one of those screens detects if you have Fragile X premutation. Fragile X syndrome is caused by CGG repeats on the X chromosome and causes mild to severe intellectual disability. It affects both males and females, but females usually have milder symptoms owing to the fact that the syndrome is inherited in an x-linked fashion. With the premutation, CGG repeats are present, but not enough for the baby to have the syndrome. Check out this episode to learn more about how this is inherited and how it can affect future generations. Download and listen now!See omnystudio.com/listener for privacy information.
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continue reading
173 episodi
Manage episode 373063079 series 3433987
Contenuto fornito da Pregnancy Pearls and Mean Ole Lion Media. Tutti i contenuti dei podcast, inclusi episodi, grafica e descrizioni dei podcast, vengono caricati e forniti direttamente da Pregnancy Pearls and Mean Ole Lion Media o dal partner della piattaforma podcast. Se ritieni che qualcuno stia utilizzando la tua opera protetta da copyright senza la tua autorizzazione, puoi seguire la procedura descritta qui https://it.player.fm/legal.
Everyone is offered a genetic screen called a carrier screening during pregnancy. The carrier screen detects if you are a carrier for 4 to 274 diseases, depending on the type of screen ordered. Well, one of those screens detects if you have Fragile X premutation. Fragile X syndrome is caused by CGG repeats on the X chromosome and causes mild to severe intellectual disability. It affects both males and females, but females usually have milder symptoms owing to the fact that the syndrome is inherited in an x-linked fashion. With the premutation, CGG repeats are present, but not enough for the baby to have the syndrome. Check out this episode to learn more about how this is inherited and how it can affect future generations. Download and listen now!See omnystudio.com/listener for privacy information.
…
continue reading
173 episodi
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