Chromosomal Disorders
What disorder shows clinical features of a clenched fist, with 5th finger overlapping 3rd and 4th digits?
Edward Syndrome
Skin elasticity
Joint subluxation/laxity
wound healing
A 42-year-old Jew comes into the primary care clinic, after doing an eye exam a macular spot is seen, which disease does he most likely have?
Tay-Sachs
After a cardiac MRI your pt has an enlarged heart and thinning heart muscles. Which cardiomyopathy is this categorized as?
Dilated CM
A 5-year-old boy presents with growth delays and characteristic features of Turner syndrome. Which of the following karyotypes is most consistent with this diagnosis?
45 X
After completing a karyotype gene test your patient shows a 47 XXY karyotype, which disorder is this?
Klinefelter Syndrome
Which disorder is associated with the FGFR3 gene?
Achondroplasia
What gene is responsible for Sickle Cell disease?
HBB gene
- jaundice
-fatigue/weakness
-frequent pain episodes
Nonheritable retinoblastoms (60%)
- unilateral + unifocal
ages 2-5
Name the end products for mitosis & meiosis
Mitosis: 2 haploid cells (cell proflileration)
Meisosi: 4 diploid cells ( genetic variation)
Cri-du-chat
A 50-year-old man is diagnosed with familial hypercholesterolemia. Which gene is responsible for this?
It is caused by a mutation in the LDLR gene.
A 7-year-old boy has a persistent cough, wheezing, and recurrent lung infections since infancy. A sweat indicated elevated levels. Which disease is responsible for this?
Cystic Fibrosis
Your patient is transferred to the ER with clinical symptoms of
Acetone "fruity" Breath
Polyuria/ Polydipsia / Polyphagia
Extreme weight loss
What is the most likely diagnosis?
Diabetic Ketoacidosis
Huntingtons disease
"greek warrior helmet"
wide spaced eyes
oral cleft
beaked nose
Polycystic Kidney Disease
-PKD1 +PKD2
-enlarged liver
blood and urine in the liver
After visiting the genetic counselor your patient is confirmed with the SLC40A1 gene and showing signs of bronzing of the skin with an enlarged kidney. Which disease is this?
type IV hemochromatosis
a 44-year-old Caucasian man with a four-year history of diabetes mellitus presents to your office for a routine check-up. He has a BP of 150/72 and already taking thiazide diuretics, what would be the best treatment option for him?
- ACEis + ARBs
You want to see if you patient is showing signs of a missense or nonsense mutation. Which detection of genetic variation method would you use?
DNA sequencing (broad)
Mass spectrometry (specific)
Which disorder is usually seen in mosaicism and exhibits a deletion on the 12p chromosome?
Pallister Kilian Syndrome
Which Hereditary thrombophilias is the most severe, and what would you treat this with?
Antithrombin deficiency
- 10-20x in VTE
-Anticoagulants and blood thinners
Type A: enlarged liver + spleen, swollen lymph nodes, progressive weakness, brain damage by 6
Type B: Ataxia, peripheral neuropathy, enlarged liver + spleen
Type C: Brain damage, difficulty walking/swallowing
Your Jewish patient is exhibiting symptoms of hepatosplenomegaly and presenting with anemia and fatigue. What gene is responsible for this disease and what chromosome is it on ?
GBA gene on 1
A couple is concerned about their risk of having a child with cystic fibrosis. The father is homozygous dominant and the mother has cystic fibrosis. What is the probability that their child will inherit cystic fibrosis?
0%