4.9 • 929 Ratings
🗓️ 1 November 2022
⏱️ 24 minutes
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0:00.0 | Okay, welcome. My name is Devine. This is episode 423 of the Devine |
0:05.2 | Intervention Podcast. In today's podcast, I'm going to be continuing the rapid |
0:08.2 | review series for the USMI Step 2, second step 3 exams. This is going to be |
0:12.0 | series 86. All right. So what if they give you a question about a child that has, you tell you is a five-year-old boy, he has intellectual disability, has autistic features, has a long face, |
0:27.8 | has a large jaw, has big, many things are large here, right? |
0:30.9 | So long face, big jaw, big ears, big testicles, right? |
0:35.0 | Sometimes these are saying big testicles. |
0:36.6 | They'll use the term macro or kidism. |
0:39.1 | What should you be thinking about? |
0:41.1 | Well, I would really hope you're saying, oh, divine, this sounds an awful lot like fragile X syndrome. |
0:45.1 | Remember fragile X syndrome is one of the tranichotide repeats disorders and in this |
0:50.8 | tranquil thiothi repeat disorder, right? |
0:52.8 | First things first is to know the mode of inheritance. |
0:54.8 | Remember, it's X-linked dominant inheritance. |
0:58.4 | Really, there are two X-linked dominant disorders |
1:00.6 | that are friends at the MBMEs really want you to know. |
1:03.0 | One is Fragile X Syndrome. |
1:05.0 | The other one is Alport Syndrome. |
1:08.0 | Alport Syndrome is another pretty high-yield X-Lincdominant disorder |
1:11.0 | that you need to know for your exams. So the thing then that will be helpful here is asking ourselves, okay, what's the tranquil growth and repeat that's a sociality of fragile X syndrome. Well, it's the CGG |
1:24.0 | trying to do with that repeat. |
1:25.0 | I remember the gene that is messed up is the FMR 1 gene, right, the FMR 1 gene, |
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