Here's a tip for remembering the eponyms associated with the different mucopolysaccharidoses (roman numerals I-IV): MPS I is "Hur1er" (Hurler) MPS II (Two) is "Hun-Two-er" (Hunter) MPS III is "SanfIIIppo" (Sanfilippo) MPS IV is MorQUio (QUad = 4)  #GeneChat #MPS

Most genetic syndromes are named in 1 of 4 ways 1. After the person who described it (eg Down syn & Dr. John Down)🧑‍⚕️ 2. After a set of symptoms (eg cardiofaciocutaneous syn) 3. After a lab finding (eg sickle cell anemia)🧪 4. After the gene/protein (eg CDKL5 deficiency) #GeneChat

Ava, a 19 yo w/ cystic fibrosis, is running low on Trikafta. She recently broke her leg and can't drive. She asks Tim, her neighbor, to pick up her Trikafta on her behalf. Tim then drives to the pharmacy & asks to pick up Ava's meds. How should the pharmacist respond? #GeneChat

Genes associated with absent kneecaps "Lower To One Knee" LMX1B = Nail-patella syndrome TBX4 = Small patella syndrome ORC1 = Meier-Gorlin syndrome KAT6B = Genitopatellar syndrome #GeneChat

A 3 year old with a recent diagnosis of I-cell disease (mucolipidosis type II) presents for a follow up visit. Abnormalities in which molecular process are the underlying cause of disease in this patient? #GeneChat

A 28-year-old woman with neurofibromatosis type 1 is applying for life insurance and is asked to fill out a comprehensive health questionnaire. Which of the following would be considered "genetic information" under GINA and could not be included on this questionnaire? #GeneChat

Just wanted to address this mistake in the question -- thank you Sarina Kopinsky & Maya Brown-Zimmerman, MPH for pointing this out. The question should have stated *health* & not *life* insurance. GINA considers family history as "genetic information" & applies to health (but not life) insurance.

A 1 month old with hemihypertrophy & macroglossia presents for an evaluation. Genetic testing confirms the diagnosis of Beckwith-Wiedemann syndrome due to mosaic paternal isodisomy. This patient's condition most likely arose through which mechanism? #GeneChat

Peroxisomes "per"fect & "oxi"dize lipids Perfect (synthesize): 📈 -plasmalogens -bile acids Oxidize (break down): 📉 -α-oxidation: phytanic & pristanic acid -β-ox: v. long chain fatty acids #GeneChat

A 4-year-old boy presents w/ progressive difficulty walking and muscle weakness. A brain MRI shows diffuse white matter abnormalities. Genetic testing reveals 2 pathogenic variants in the ARSA gene. What cellular mechanism is responsible for his symptoms? #GeneChat

A 3-week-old boy is in the NICU w/ persistent hypoglycemia. He is on continuous nasogastric feeds. Labs show ⬆️ insulin levels, & the diagnosis of congenital hyperinsulinism is suspected. A loss-of-function variant in which ion channel could result in this disorder? #GeneChat

One hallmark of CDGs is that you "Can't Distribute Grease" (i.e., fat🧈) evenly. CDGs cause abnormal subq fat distribution that presents as: 👉 Inverted nipples (due to insufficient fat beneath the areola) 👉 Supragluteal fat pads (due to extra fat above the buttocks) #GeneChat

To remember the features of Norrie disease, think “NORIE”: NDP (X-linked) O – vascular disease Retinal degeneration Intellectual disability Ear (hearing loss) Remember: “Norrie has No retina” #GeneChat

A 5 year old boy presents with global developmental delay & an excessive appetite. His BMI is >99th percentile for age. Follow up studies suggest the presence of uniparental heterodisomy involving chromosome 15. Where did this abnormality most likely originate from? #GeneChat

To remember the number of CAG repeats that cause Huntington's disease (≥40), think of this Hunter with his bow and arrow shaped like the number "4". His head looks like the number "0". #GeneChat

Finally changing my phone wallpaper now that I have passed boards!! Shout out to Daniel and Lynsey from StudyRare 🧬 for emphasizing imprinting disorders and embryology 😔✊🏼 ...And yes, I really was extra enough to make this wallpaper so I would see it every. single. day 😂💀

A 10 yr old ♂️ with congenital bilateral sensorineural deafness ,life-long history of seizures and recurrent syncope. ECG done showed 👇 What is the diagnosis? Treatment? #MedTwitter #MedEd #FOAMed #MedX #CardioTwitter #Heart #Health #Clinical #Medical #genetic #Medicine

A woman at 16 weeks gestation presents for a prenatal visit. Prenatal ultrasound shows a fetus with a ventricular septal defect and short femurs. A karotype is performed and shows 47,XY,+21. This extra chromosome likely arose due to an error in which stage of cell division?