DIP Episode 224 - Genetic Diseases 2: Chromosomes (For Step 1 and 2CK)

Okay, welcome. My name is Divine, I'm a resident. This is episode 224 of the Divine Intervention Podcast. And in this podcast, this is essentially a podcast on genetic diseases, but this podcast is going to be focused on chromosomes, especially chromosomes that are relevant and highly tested on the USMLE exams. So we'll just have a bunch of clinical vignettes. We'll talk about the relevant chromosome, leaks on higher than degradions, and then we'll be on our way. So this should be a relatively short and sweet podcast. Now, what if they give you a question about a patient and tell you that this patient has like bilateral renoucelle carcinomas, usually it's like the clear cell type, or they tell you that, oh, this patient has like a mass that you find in the vermice of the cerebellum. So, you know, maybe this person has like a e-taxia. And then they tell you that, oh, in addition to that, this patient also has like very high hematocrit, right, from like elevated ipo. If you see that, I'll really be thinking about VHL, right, Von Hippolendau. Von Hippolendau, right, it's an orzomo dominant disease. The chromosome that's all screwed up in this case is chromosome 3. And again, don't forget your classic associations. Those people tend to have a lot of pancreatic cysts. They tend to have bilateral renoucelle carcinomas. They tend to have hemangioblastomas. That's like a brain tumor. It's always in the cerebellum on NB and this.

And usually it secretes ipo and a part of your plastic fashion. So those are the big things you want to keep at the back of your mind with VHL. And again, it's a chromosome 3 defect. Now, what if they give you a question about a patient and you know, they'll tell you that all this patient has been at 10 weird for the last six months. They're having these like neuropsych problems. Unless she's like in the early 40s. And they tell you that she's been having a choreoform movement of our upper extremities. And if you see that, what do you want to think about in the test? I hope you're thinking about Huntington's disease, right? Or really, really, I hope you're thinking about Huntington's disease. I remember Huntington's disease that big plastic thing I want to keep by the back of your mind for exams is its association with its association with with atrophy of the codec nucleus, right? To remember, the chromosome that's all screwed up here is chromosome 4. Okay? So chromosome that's all screwed up here is chromosome 4. And remember, it's all of the more dominant in inheritance. And it's a trend growth at repeat disorder. Right? In this case, the trend growth at repeat is C.E.G. Right? It's a C.E.G. Trend growth at repeat. And for the most part, these people have high levels of dopamine. That's what's kind of like screen them up. And they also have low levels of GABA. That's actually very high. Right?

So they tend to have, in fact, the dopamine stuff is not as prominent as the GABA stuff to the honest review. The GABA stuff is the thing that usually puts those people in trouble. Right? They have like this function, or you can even say like death of neurons that produce GABA. Right? So they have like almost no inhibition. They have too much stimulation. So that's a high yield thing to keep in mind. And again, that's a chromosome 4 issue. And remember, there are some key things that go with many of these all of the more dominant diseases, especially content tense. Right? The ones that your friends at the end of the middle of to test one is like anticipation, right? Where the disease is showing up like in a big and badder form. Or much earlier in life as future generations have the problem. That's anticipation. Another genetic principle you want to keep at the back of your mind is this phenomenon known as variable expressivity. So it just basically means that oh, that everyone that has the same disease, right? The same like, or the zomodominant disease. They don't usually have the exact same kind of symptoms. Right? So like for example, neurofibromatosis is like one. Some people can have like the coffee on these spots and the neurofibromas. Some may have the leash nodules and the brain tumors. Some may have fiochromocytomas. So you know, there's kind of like a variation in how the disease is expressed.

Even if it's the same disease, that's why it's called variable expressivity. And then many trends is just a measure of how many people have in a genetic mutation actually have the disease. Right? So for example, you may be so very maybe like, man, I thought this person has this mutation is the child of a person that has the sort of zomodominant disease. What do you have? Almost no symptoms. If you see that's that's what's known as a penetrance. Right? So, penetrance just means, oh, you think that a hundred percent of people that have a mutation from like a parent should have a disease, but not all of them do or they don't have like a severe disease. If you see that think about like variability in penetrance as well. So, so, Huntington's disease definitely occurs on four problems. And then if they give you a question about like a child, let's say this child is like really short and this child has like a like very big like frontal bossein until the operandloxionis are really tiny and this child has like lordosis, but they tell you that oh, this child has like normal intelligence, has a normal lifespan, reproduces just fine. If you see that you want to think about a controversial, right? Remember, a controversial it's an zomodominant disease. Basically, these people have screwed up in the control of cification. So, membrane or cification is all they can kind of go with.

And it's an zomodominant disease and they have like a gain of function mutation in a receptor called FGFR3, right? So, fibroblast growth factor receptor 3, right? It's also chromosome 4 defect actually. And then one other thing I guess that's a zytochromosome 4, right, is what if they give you a question about a patient? They tell you that oh, this patient has like bilateral renal masses and you know, this patient, I don't know, let's say like they've been treated for a sub-racidine hemorrhage like a few years ago. And they also tell you that oh, when you listen to the apex that you can hear like a marmalade mitzhistolic click that gets softer with going from a sub-indem- from a standing to a sub-indemposition. If you see that, that's pretty easy, that's ADP-KD, right? But it was a normal dominant polycystic kidney disease. I remember the associations I kind of highlighted there. My trovov prolapse, right, is a classic finding that's the number I was describing. They can also have like rupture of aneurysms in the circle of willis, right? That's another thing I was talking about. That's why that's the whole sub-racidine business, right? We're setting up the patient's life. And then another high-yield thing to keep at the back of your mind is those people also tend to have those other things. They have obviously they have bilateral polycystic kidneys, but another thing they also have is also they can have liver cysts, they can have like cysts in the liver.

That's something to keep in mind. So those are your coronation four things. And the thing is at the end of this podcast, I will just kind of like run through these genes again real quick. And then what if they give you a question about a patient? And let's say it's like a seven-month-old child, Luzemurumal stones, has fascinulations, on physical exam. If you see that what disease are you thinking about? This one's pretty easy, right? This is a spinal muscular atrophy, right? That's the one that we classically call redening heart-front disease. Remember it's a low-modern year-end disorder. It's going to happen in kids usually past the age of six months. And remember it's a mutation in a gene known as the SMN1 gene, right? The survival-modern year-on-one gene. And it's a chromosome five problem, right? So it comes on five problem. That's probably the more common chromosome five thing that your friends at the NBME love to test. The other ones that we test is, you know, that we give you a question about a child that has like thousands of polyps in the colon before the age of 20. That's FAP, right? So remember that's from an EPC gene mutation. That's chromosome five as well. And then if a child has like a cut-like cryo-critosha, that's also a chromosome five problem. But I'll see the big chromosome five thing is a is a spinal musculatrophy, which again we call redening cough-front disease. It's the anterior heart of a spinal cord that's all screwed up in those people.

And then what if they give you a question about a patient? And this patient, you know, let's say it's like a 52-year-old guy. His glucose is high. He's having marital problems because he cannot get his stuff up with his wife. And you know, let's say he has like, I don't know like, restrictive of the lethal cardiomyopathy and he has like a rody appearance. So are you WDY? I hope you're thinking about hemochromatosis, right? That's actually a chromosome six problem. Don't forget in hemochromatosis, right? Your first diagnostic step is to check the ferritin or the transfer insaturation. It will be elevated, right? And remember that the gene mutation is like the HFE gene mutation. Sometimes your friends at the MV instead of putting HFE in your coli-like the C2-E2-Y gene mutation. It's one of the same thing. And you treat those people full of vitamin, right? That's just a big thing you want to keep in mind. And then what if they give you a question about a child? Let's say she's like six years old. She has had like multiple respiratory infections. She's like a second percentile for a weight and height. And you tell you that she always has like fatty fluid installs. And she has had like three bolts of merce pneumonia. Essentials are born. If you see that, I would really hope you think about cystic fibrosis. Right? Cysty fibrosis. Remember, an absorbed recessive disease. There are many things that can happen to a CF patient, right?

They can have like they can have like a meconium elias, right? So they don't poop within the first 40 days of life because they have like thick visits, secretions. They can have like pancreatitis, right? So you can have fat soluble vitamin deficiencies. So like that means ETE and K because again, because they have like a gong top pancreatic duct. They're not going to be able to secret all those pancreatic enzymes. And they can also have, they can also have what is it called? They can have like a gong top as a creatine secretion so they can get fat soluble vitamin deficiencies. They can get fat malabsorption. They get recurrent, operas with urine infections. Remember, the most common cause of pneumonia in those folks before 20 is merce. But after 20 is so the most right? And they can also have like each genesis of the vas deferred. So that can kind of scrub their reproductive potential. These are all high yield things along for the exam. And don't forget that it's an autosomorous cesive disease and it's from a CFTR genutitia, right? And remember, it's like the delta F5. I think it's 505 or 502. It's one of those two. Just look it up. I'm fairly certain it's the delta F. It just came to my mind. Delta F5 O8 mutation. And you can treat it with drugs like Iva cough-tore, right? Like Iva cough-tore on exams. That's pretty much all I think I'm going to say with CF. And then on the classic antithocromosome 7 problem, again, autosomorous cesive inheritance.

But if they give you a question about like a child that has like elephant feces, almost like a cocktail party personality, and this child has like, you know, like has a bunch of other problems, you know, like euridic stenosis where the issues above the valve itself, versus contrast that with hypertrophic obstructive cardiomyopathy where they have like a sub-volvula euridic stenosis. So you have a problem like above the euridic valve, they have like hypercalsemia, they have elephant feces, intellectual disability. Sometimes an MDM is instead of saying like the cocktail party personality that they say that this person has a locoacious personality. If you see that, think about like a deletion on chromosome 7. That's something that's known as Williams syndrome, right? Elfin feces is probably the big, big buzzword you want to remember at the top of your head, that's a chromosome 7 problem. And then what if they give you a question about a child? And this child, you know, has like a lot of like, it can even be a girl, right? Girl uses orthotics because she's been having all these food problems, she has like piscavus, has like chyrifuses, has to visit the orthopedic surgeon all the time. If you see that, I hope you're thinking about like phrygixetaxia, right? Phrygisetaxia, that's an otosomor recessive disease, but it's not video training to repeat the disorder, right? And it's GAA, right? It's a GAA training to repeat. That's phrygixetaxia. That's a chromosome 9 defect.

And that's all I think I'm going to say on MDM. I mean, another chromosome 9 one is like, they can give you a question about a child that may have like, renal angiomyel like pomas and cardiocrabdomiomas and like all these tubers in the brain. And they tell you that, oh, on physical exam, you see all these hypo pigmented molecules on the skin. Those are your Ashley spots, right? That's pretty classic for tuberous sclerosis. Remember, tuberous sclerosis has like a super high yield association with with seizure disorder known as a west syndrome. Sometimes people call it like infantile spasms. And obviously for those, right? If you do an EEG on those patients, you'll get the classically described hypsiorethmia, right? And you treat that seizure disorder actually with ECTH, right? You'll be a child of tuberous sclerosis that has a lot of like generalized chronic cloning seizures like tons every single day. And usually it'll be a child that's like around a year or less old on an MDM exam. And then what if they give you a question about a child and they tell you that, oh, this child, you know, his low pressure is a little avoided and his mom noticed that she was beating him, that he has a flank mass. And then you know, they tell you that, oh, you decide to get imaging. And you see like a non-calcified mass on the flank that does not cross the midline. That's one stroma, right? Remember one stroma has a lot of associations, right?

So you tell me like the EEG are complex where like they have one stroma, they have an erudia, and they have like a geo problems, they have like mentore, like I mean a geritorum, urinary genitorum, urinary problems, right? Remember one stroma is also a sort of like big-width widom syndrome, right? Where they have like hemi hypertrophy. So one side of the body is bigger than the other, right? And they have like a paroblastoma, that's like a red, red-upocortin mass. And then they will also have, they can have like neonidosisias from hypochloricemia because they have like an increase like hyperplasia of their pancreatic beta-ilate cells. Remember, a backwidth widomine is an overgrowth syndrome. So whenever you see worms, drummers, yeah, think about chromosome 11. Typically the mutation is like in WT1 or like WT2, right? So worms, drummers, uh, worms, drummers. And then the other chromosome 11 classic pathology actually on the beam exams is this thing where the give you a question and this patient has like a detail that oh this patient has like, has had like a prolectinoma in their lives, and they have like, they've had like hypercalcemia from primary hyperparthyroidism, and then they tell you that oh that they have like one of these pancreatic neurocranemthingis like either like gastronomers with the zollingerly syndrome or the necrolitic micratureary thema with blocagonomers or the whipols triad with an insolentoma or the WDHA syndrome.

Sometimes it's called like Verna-Mori syndrome with a viperma. If you're seeing of those things, you see parthyroid problems, so hypercalcemia essentially pancreatic problems like the pancreatic neuroendocrine tumors and the vitroiteriaidonomers, usually a prolectinoma. If you see that that's MEN1, right? Remember MEN1 or the zomodominondisoder Menin, MENIN, Hidmiotisha, right? So chromosome 11 problem as well. And remember it's a zomodominondinheritins, right? And then what did they give you a question about a newborn that has like a white reflex instead of a red reflex? And you see, ooh, this newborn is at increased risk of which cancer in the future. This is an RBG mutation, right? Therachnoblastoma. For the most part of these people, they have high risk of osteosarcoma in the future. Basically, they have like an aberrant transition from the G1 to the S-phase, even if they have like a com related mutations. So retinoblastoma is actually a chromosome 13 problem. And again, remember to increase the osteosarcoma risk in the future. And I mean, obviously, I don't forget your well-sensed disease, right? Those people, classically, on NV Me exams, they'll have like chisaflasherings in the eye, they'll have Parkinsoniums problems because of the copper deposition in the bisocanglia, they'll have like neuropsych things, they may act like they have schizophrenia, they may give you like almost like a schizophrenia, like presentation on an NV Me exam.

And obviously, they'll have very low levels of seroloplasmen in their bloodstream. It's the sort that Cicero chromosome 13. Remember, those people should not get the pyroguard. The copper IUD is contraindicated in those folks. And you can treat it with like triantine or penicillamine, right? But remember, triantine, it's an awesome copper collider, but it's also an awesome zinc collider. So you can give you an NV Me question where a person has a zinc deficiency from having well-sensed disease, right? And then don't forget, like your brachatube mutation, which is a sort of like breast cancer, right? That's also a chromosome 13 thing. And then try some of 13, right? Where do you have like clef lip clef pallets, rocker bottom feet, tulipers, and sephaly, but stuff like that? I'll try some of 13 is patose syndrome, right? And then if they give you a question about like a like a boy that is bracing me to like lock up the fridge because he's like super obese, it's all the time. Has intellectual disability and the tell you that oh, at birth, this child was hypotonic. You know, you want to think about a patose syndrome. I mean, sorry, not patose, I'm pretty willing syndrome. And then the girl counterpart, right? Like where, you know, she has like inappropriate laughter. She has intellectual disability, like it's called like the happy puppet syndrome, enjoyment, that's chromosome 13 as well. I mean, chromosome 15, what do I keep saying? 13, 15. I just finished 13. So chromosome 15.

Remember, Prado will be right there. So genetics, buzzwords, your NBME friends kind of expect you to know. So Prado will, don't forget, right? An enjoyment, the examples of like genomic in printing, right? So what do I mean by that? Right? So typically let's say your guy, let's see, special genome chromosome 15, let's call it chromosome like GNS. Special genome chromosome 15, GNS, you get it from mom and dad. If you're a guy, you turn off the one from mom and then use the one from dad. Well, if you turn off the one from mom, but that's gene is mutated. We essentially have node and the one that's turned off is turned off by genomic in printing. And let's say that's gene S on chromosome 15 is all screwed up, right? You won't have any gene product from any period because mom's gene has been turned off. That gene has been mutated, right? That will cause Prado really. Reverse is the case with mom, right? If you're a woman, you get both GN Ss, one from dad, one from mom. You turn off dads because that's what you're supposed to do, right? But you don't turn off, you turn off dads with genomic in printing or you have moms, right? But moms, gene, if it's mutated, they can have zero gene products, that's the genomic in printing. That will give you enjoyment, right? But I'm not making seem that your friends at the NV Me love to test is because think about it. There are two ways you can get Prado really, for example.

I've talked about one mechanism like mom's gene is turned off, which is the normal thing, right? But dad's gene doesn't work because it's mutated. Well alternatively, you could get both of those gene SS from mom, right? As a guy, right? But the thing is because you're a guy, both of those genes are turned off and you're getting both of mom's genes, then both of them will be turned off, right? So it's like you're getting two genes from one parent. So you can get any gene product because genomic in printing turns off those two, right? Whenever you get two genes from one parent, right? That was known as uniparental disobey, right? Uniparental one parent disobey two genes, two genes, one parent, okay? That's very high you to know for example. And then don't forget, right? Like if they give you a kid with like hyper extensible skin, has had like a wide immediate sign in the past, has a restrictive lung disease from like pectus x-cavada, has a lens that's dislocated upward and outward, right? Has had the worst headache of their lives. Think about morphins, right? So it's pretty easy. It'll be a person that's like six foot whatever tall. I remember morphins, right? You tend to have like momoline intelligence, it's a fibrilline, gene mutation, chromosome 15 is all screwed up kind of like predoily and indio-man. They can have mitral valve prolapse, they can have erotic aneurysms, they can have erotic dissection, they can get like our optrov aneurysm in the circle of ulyse.

In fact, that's the most common cause of death in morphins. I remember they tend to have normal intelligence, right? On like hyper homocysteineemia, right? The cystotani beta synthesis, gene mutation where the tall, what do you have? Intellectual disability. So you know, just all things to keep in mind with morphins and morphins. Again, they can have all those pectus anomalies, like chifuses, whatever. Those can kind of like make it hard for the lungs to expand so they can get a restrictive lung disease. But obviously those people have restrictive lung disease with normal TLCO, because there's nothing intrinsically wrong with the lungs. And also they'll have restrictive lung disease with a normal EE gradient because again, there's nothing intrinsically wrong with the lungs there, right? So just you know, high up stuff to keep in mind. So and then if they give you a question, I've kind of talked about like autosomal dominant polycystic kidney disease. I said that's chromosome 4. That's also chromosome 16. Just remember, 4 squared is 16. So it's a chromosome 400 chromosome 16 problem. It's like because people that have ADPKD, right? They can have like a PKD1 gene mutation or they can have a PKD2 gene mutation, right? The PKD1 gene mutation is a chromosome 16. You see the number 16 has a one in it. And then PKD2 is a chromosome 4 problem. Two squared is four. That's just a nice way to remember it. And then there's this nifty trick I teach people that I teach.

It's just something that kind of screws people over an example. So let me just give you this trick and you'll basically like permanently solve this problem I'm about to talk about. And then I'll get back on these chromosomes. So glycogen story disease type 2, right? Pompase disease. It's a mutation in a, they have a deficiency of an enzyme known as acid motase, right? Acid motase is also known as alpha one for glucosides, right? The thing is your friends at the end of the media actually kind of like that alpha one glucosides thing because choris disease, which is glycogen story disease type 3, is also associated with an enzyme defect or an enzyme deficiency. But in this case, it's alpha one six glucosides. I mean, it's the branching enzyme, but usually your friends at the end of the media love to put alpha one six glucosides, right? They love to put that stuff on there. So because so they can put like a pump paste question or choris question and then put both answers alpha one for glucosides alpha one six glucosides. So you know some people may say, oh, divine, how do I remember this, right? Well, there's this trick I teach people like tutor. Alpha, so choris disease is, I mean, pumpase disease is glycogen story disease type 2, right? GSD type 2. If you double the number 2, what do you get? You get 4, right? Alpha one four glucosides. Choris disease is glycogen story disease type what? 3. If you double the number 3, that's 6, right? Alpha one six glucosides.

That's a perfect way to keep that stuff straight. I mean, if you want more details on the glycogen story diseases, I have like a dedicated podcast on it was probably one of the earliest podcasts I made on my website. It's probably like podcasting never know something like that. Just look for it on the website or you can check the spreadsheet that I have. That should kind of help you out there. And then what if they give you a question about, and I guess technically tuberous sclerosis is also chromosome 16 problem. Just for completeness seek, yeah, tuberous sclerosis is also chromosome 16 problem. Although, I remember tuberous sclerosis is also chromosome 9 problem like we have for phrygic etaxia. And I mean, tuberous sclerosis essentially they'll have like a TSE1 and a TSE2 gene mutation. TSE1 course for protein known as hematine TSE2 course for protein known as tuberous. So if you have like a TSE1 gene mutation chromosome 9 TSE2 chromosome 16, then you can have tuberous sclerosis. And then I mean, what if they give you a question about a child that has caffeine leaf spots. Remember, those are hyperpepigmented molecules on the skin. This child has like lesion modules in the eye, has remember those are like irisamer tumors. This child has like phyocromocyte tumors, has phenoid wing dysplasia. They can have you know, just many different kinds of problems. Think about NF1, right? When we're clean houses, disease, or as a more dominant inheritance, right?

It's a chromosome 17 problem. And also like the BRCA1 and the P53 gene mutations, right? Those are all chromosome 17 problems. And then don't forget your trisomies, right? Trisomine 18, you know, rocker-broadome feet, right? Overlapping and remember the quad-screen results, right? Low AFP, low estriol, low in hebin, right? But like normal, sorry. So low alpha-fiddle protein, low estriol, low beta-hicg, but normal in hebin. That's Edward syndrome, right? Trisomine 18. And then don't forget Down syndrome, right? Trisomine 21. So it's pretty easy. Remember, they can have like blood malatricia, which is a failure of recalalization. They can have anolapancreas. They can have herchprone disease. So that can present as leconium ilias. They can get into cardio cushioned effects. Those are the most common congenital cardiac anomalies that we find in people with, with downs. They can have like early onset Alzheimer's because they have like three copies of the amyloid percosopratine gene. They can have just many, many, many, many problems, right? They can get ALL, right? Very early in life. So there's just all things to keep at the back of your mind. Down syndrome is obviously trisomine 21. And don't forget the most common mechanism behind Down syndrome is maternal non-disjunction, right? Like maybe like 95% of cases. But I'm not think that would cause down is something called a Rorbozonian translocation. Rorbozonian translocation does like in two percent of cases.

I'll probably have like a very high level genetic mechanisms podcast in the future. We explain like all these genetic mechanisms that kind of mess people up on tests. And then what if they give you a question about a patient? And this patient has like, you know, like hypocalcymic seizures as a neonate, has truncocacteriosis or tetralogy of flow, has like all these like viral, fungal, PCP infections. That's, and they have like cleftly cleft palettes, right? Remember catch 22, right? That's the George syndrome. Pretty easy. 22, Q 11. Another chromosome 22 problem, right? If they give you a question about a patient by lateral acoustic neuromas, sometimes they call it vestibular schwanomas. On an in-bim exam, that's NF2, right? Remember NF2 chromosome 22. One of those neurocutaneous problems, although NF1 is probably the more neurocutaneous one. And then if they give you a question about a child, you know, there has big ears, big testicles, think about, and maybe has like ADHD, has like a behavioral psych thing going on. That's fragile X, right? fragile X is X-linked dominant, remember it's an X chromosome problem, right? And then if they give you a question about a child that, you know, after six months of the starts getting all these bacterial infections, and they tell you that all the tonsils are basically non-existent in this child, and it's a boy, right? Because this is X-linked recessive inheritance. Think about X-linked telegamaglobulinemia, right?

Bortons E-gamaglobulinemia. Remember, it's a mutation in the BTK gene, Bortons Tarrasing Kindings, it's X-linked recessive inheritance, so it only be a girl. I mean, sorry, the boy, whoops, in a boy, on an in-bim exam, it's not going to be a girl. And they usually start having problems after six months of each, because the IgG that crosses the placenta from mom while they're in Europe, you know, kind of like, kind of goes away during that period. And then, yeah, that's all for Bortons, and again, they'll have B cell problems, so they can make it like a humoral immunity, the efficiency question, an MDM, or they can make it like a B cell meditated immunity problem, because basically, their B cells don't mature, essentially, right? Or they can make it like antibody meditated immunity squibble, right? And then, what if they give you a question about like a six-foot-old guy, has tiny testicles, so it's having like, lower productivity potential, has kind of comastia. If you see that, that's pretty easy, right? That's client filters, right? Client filter, that's XXY. Yeah, that's kind of like the big thing I want to keep in mind there. So, let me give you two sets of lists, right? So let me give you a list that I'm like, okay, this is probably more so for a person that's like bound for step two CK, like in terms of the genes, they will be testing more, and then I'll give you the more comprehensive list at the end, which is more for like a person that's taking step one, right?

So in terms of step two CK, if you want to know your chromosomes, so let me just mentally run through this stuff. So, chromosome three, that's VHL, right? That's one hip-olendol, you want to make sure you know that. Chromosome four, you want to keep that in mind with Huntington's disease and acondroplasia, right? Chromosome five, you want to think in terms of spinal muscular atrophy, right? Low motor on your end disorder, we're doing coughing disease. Chromosome six, you want to think about that with hereditary hemocromatosis, chromosome seven, you want to think about cystic fibrosis, right? And you also want to think about William Syndrome, remember the childhood of the alphin feces and the locoicious personality. Chromosome, let's see, the next big one, William's Trumors, remember chromosome 11, that's Hyautonal. Chromosome 13, right? Don't forget like you're trying to make 13, that's a two syndrome. Chromosome 15 is floridly Hyautonal for example, remember Prido-Willi Syndrome, Injouman Syndrome and Marfaits, right? And then chromosome 17, NF1 is definitely a big one too, and also P53, and then don't forget your 18, right? Trisomy team Edward Syndrome, Trisomy 21, Down Syndrome, and then chromosome 22, don't forget like the George third and fourth pharyngeal pouches don't form, right? So famous parathyroid's all screwed up. Yeah, the George's chromosome 22, and then there's one more NF2 on chromosome 22.

So that's like the step to seek aid list for people that are taking step one, right? Chromosome 3, think about VHL, which I already mentioned, chromosome 4, don't forget your ADPKD, don't forget your hauntings and a condroplasia. Chromosome 5, don't forget Spynomoscular atrophy, right? Don't forget APC geneticions with family, like the nomadus, suppoliposis, don't forget like the kid with the cat-like cryo-chah, right? That's chromosome 5, chromosome 6 is hemochromatosis, chromosome 7 is cystic fibrosis, and a William Syndrome, chromosome 9, right? That's a Phrygicytaxia and tuberosclerosis, especially like the TSC1 gene mutation in TSC. And then remember, tuberosclerosis, hypo-pigmented macros on the skin, those are the Ashley spots. Chromosome 11, don't forget womb tumors, don't forget your MEN1 syndrome, that's how you'll know for example, remember Pryotheraid pancreas and pituitary problems, chromosome 13, don't forget your trisomy 13, that's Bato syndrome, don't forget well-sens disease, right? With chisoflasherings in the eye, don't forget the retinoblastoma and the increased risk of getting osteoacomas in the future, don't forget your BRCA2 mutations. And then for chromosome 15, don't forget Pradawili, Injuman and Marfans, chromosome 16, that's ADPKD, right? The PKD1 gene mutation, contrast that PKD2, which is chromosome 4, right? And then, don't forget tuberosclerosis, but this case is the TSC2, which calls for tuberoid, versus TSC1, hemartin, that's chromosome 9.

And then for chromosome 17, don't forget NF1, right? Don't forget P53, and don't forget your BRCA1. Remember BRCA1 is chromosome 17, BRCA2 is chromosome 13. And then Edward syndrome, right? Is your trisomy 18, Down syndrome trisomy 21, and then your chromosome 22 problems, right? Remember NF2, on chromosome 22, and don't forget your 22-Q11, your catch 22 problems, right? Dejorge, right? And then don't forget your excellent stuff, like, you know, like fragile X, fragilex, client filters, X-link, Figma, global, and Emia. So that's the step one list, but the step two list is much more paired, and you know, just gonna leave it at that. So thank you for listening to this podcast. Sorry, it kind of became a little longer than I expected. As I do at the end of every podcast, I do a full one on one, two, three, four, ton of exams. Step one, two, CK2, CK3, pre-clinical medical exams, 30-ish-off exams. If you're a medicine or a repeat resident, I offer two doing for the in training exams, for those specialties and the board exams. And I also offer these booster courses, it's 20 ads across the board for step one, two, CK3, and step three. Again, people that have done this, it's funny to be super, super, super helpful. And then I also offer the regular one on one tier, and as I've said, I either charge it on hourly rate, or you can get a package of 20, 40, 80, 160 hours, or 120 hours. Just reach out to me for it's on that.

And then if you're mentally applying to residency, so like an ERAS application, or a callisterly applying to medical school, so an AMCA application, reach out to me. I can help with like editing your personal statements, rec letters, more interviews by specialty. Again, I've worked with people for tons of specialties that I've all, I mean, I had a very successful, much-season with the people I worked with. And then, if you know, you have a college body that needs to be doing for like Gen CAM, O-CAM, Physics Bio-CAM, Histology of Physiology, just reach out to me, I'll be happy to tutor them. So you can either send, reach out to me either through Divine Intervention podcasts with an S at the end, at gmail.com, or you can reach out to me through the website, Divine Intervention Podcast.com. So please subscribe to the Word Press website, subscribe to the You Tube channel, it's called Divine Intervention Podcasts and Videos. Subscribe to the podcast, I have it on Apple Podcasts, I have it on Spotify, I have it on Google Play. And I guess my life lesson for today is the importance of staying humble, right? Regardless of how smart you are, regardless of how killer you are, like, oh, this person always crushes exams and everything. Remember to keep a low profile, right? Don't be the one to announce yourself, let your actions announce you, right? Actions speak a lot better than words, right?

Don't let, don't, don't sing your own praises, let other people sing your own praises, that's just a good way to live in general. Because if you're the one singing your own praises, it just doesn't feel right, right? So just be humble, you don't need to blow your horn, there's this common adage in Nigeria, that empty barrels make the most noise, right? Like people that don't really have much substance, they're the ones that blow their trumpets on the highest health, right? You know, just kind of be humble, right? You've seen some people, they're like super, super wealthy, but they are very, very lucky, right? Or they are super, super smart, and you don't, you don't see them make a Facebook post about how they killed their USMLA exams or whatever. There's nothing wrong with doing that, right? I will let you decide for yourself what humility and what pride means to you, but you know, just keep a low profile, right? You're just protecting yourself. And then like, just keep a low profile, you don't have to be, because the thing is when you're like proud like that, you begin to drum up jealousy in other people, which is wrong from their own perspective, you should be, you should, you know, usually admire other people's successes, you shouldn't be jealous of it, right? But you're bringing up jealousy from other people, and then people that just have less than ideal character will then try to find ways to pull you down, right? They will try to find ways to bring you down, right?

So when you're proud, right? Like people will not, like you won't get favoring the side of people, right? So just kind of be careful with that, be humble, because it's a fairly common practice to be proud as a met student, but you know, be humble. Yeah, the whole world does not need to know about your success, right? They can find out, but let it not be for you. Let's put it that way, right? So I'll just kind of leave it at that, that's kind of like my philosophy on things. Yeah, like for me, like I'm not like, like I post on Facebook a lot to be honest with you, but it's not like I get my step one scores or step two scores, and I start posting for the whole world to see, no, that's not the world's business, that's my personal business. So, you know, just kind of be humble, keep low, low key profile, because really think the people that are super, super wealthy in this world, like top of the Forbes, Forbes list, that kind of deal, you don't hear about them, like all the time, right? You hear about the most they meet, not like the people that be saved by supply aid drugs to in Africa or something, not like them talking about how proud they are. You see them when they dress, they don't dress like in the most expensive or fashion. They're pretty low key, dress like wear like a t-shirt and like, like any like Mark Cuban, for example, right? One of the Dallas Mavericks, pretty low key, right?

He wears like pet like denim pants, t-shirts, but that guy is a, he's a big time billionaire. I mean, he peace finds to the NBL the time, like 500,000, doesn't even sneeze at it, right? So, you know, just keep a low profile, right? There are more people that are a lot more successful than you that keep a much lower profile than you that maybe are just reaching the thousands, right? So, I think I've kind of like talked about that enough, so I'm just go ahead and stop here. So, thank you for listening to this podcast. Again, this podcast is Florida High Yode, I know I'm going to title it the Chromosome podcast, but there's a lot of like genetic stuff that I talked about. I essentially give you the classic presentation of like 30 genetic diseases, right? That are very highly, and heavily tested on exams. So, please listen to this. Take detailed notes. Go over it multiple times and you'll be set. And again, if you're a 30-year medical student with all the closures that have been going on, you better make sure you're doing some kind of study in that home for step 2ck. Because this year, with these applications, I will tell you right now, Admission program directors are going to use the step 2ck score very avidly, right? They will understand, they'll be like, you know, you couldn't do a wee rotations. That's understandable, or you don't have all your rotations completed. That's understandable, but they'll say, so why do you have a poor step 2ck score?

What were you doing during the pandemic, right? The pandemic may prevent you from doing aways or from doing rotations, but they're doesn't prevent you from studying, right? So, if you're a 30-year medical student, I will strongly encourage you because, I mean, no one knows how long this thing will last, but I mean, now, it's accelerating pretty badly, praying that everything gets better, but you better use this time to study. You better use this time to study. I promise you, it will be time well spent and work on parts of your application, like your personal statement and stuff, that you can complete in this time. Because when everything opens back up, which it will, at some point, because this 2ck pass, this coronavirus shall pass. So, when things open back up, trust me, you will wish for the time, like everything will be scrambling for time, but step 2ck scores will matter. For this application season, that's one big bold prediction I have. So, please, please, use your time wisely. So, thank you for listening to this podcast. I'll see you in the next episode. Thank you, God bless you.

Bilateral renal cell carcinomas, hemangioblastomas (especially in the cerebellum), and elevated EPO levels/high hematocrit.

Chromosome 4. It is an autosomal dominant trinucleotide repeat disorder (CAG).

Elfin facies, supravalvular aortic stenosis (cardiac), and a "cocktail party" or loquacious personality.

Multiple Endocrine Neoplasia type 1 (MEN1), which is also associated with chromosome 11 defects.

Hypopigmented macules (Ashy spots). TSC can involve multiple organs, including brain and kidneys.

Spinal Muscular Atrophy (SMA), caused by mutations in the SMN1 gene.

Von Hippel-Lindau Syndrome (VHL): Renal cell carcinoma, hemangioblastomas, elevated EPO.

Chromosome 15. PWS results from loss of paternal function; AS results from loss of maternal function.

Cardiac defects (e.g., AV canal defect), hypotonia, and increased risk of early-onset Alzheimer's disease.

Chromosome 17. These genes are critical tumor suppressors often implicated in neurocutaneous syndromes.

Autosomal Dominant Polycystic Kidney Disease (ADPKD). PKD2 is on Chr 4; PKD1 is on Chr 16.

Retinoblastoma (suggests an underlying RBG mutation/defect).

Von Hippel-Lindau Syndrome (VHL): Renal cell carcinoma, hemangioblastomas, elevated EPO.

Chromosome 15. PWS results from loss of paternal function; AS results from loss of maternal function.

Cardiac defects (e.g., AV canal defect), hypotonia, and increased risk of early-onset Alzheimer's disease.

Chromosome 17. These genes are critical tumor suppressors often implicated in neurocutaneous syndromes.

Autosomal Dominant Polycystic Kidney Disease (ADPKD). PKD2 is on Chr 4; PKD1 is on Chr 16.

Retinoblastoma (suggests an underlying RBG mutation/defect).