Genetic disorders — Flashcards

Flashcard 1: Hunter's syndrome

Answer:

Extra: accumulation of heparan/dermatan sulfatemild: developmental delay, gargoylism, airway obstruction, hepatosplenomegaly + aggressive behavior - corneal clouding XRiduronate sulfatase

Flashcard 2: Hurler's syndrome

Answer:

Extra: accumulation of heparan/dermatan sulfatedevelopmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegalyARα-L-iduronidase

Flashcard 3: What manifestation of 22q11 deletion syndrome define velocardiofacial syndrome?

Answer: cardiac, palate, facial defects

Flashcard 4: Williams syndrome

Answer:

Extra: elfin facies, mild retardation, hyper-verbal, hyper-friendly, diverse cardiovascular problemshypercalcemia7q microdeletion (including elastin gene)

Flashcard 5: Prader-Willi syndrome

Answer:

Extra: mental retardation, hyperphagia, obesity, hypogonadism, hypotoniaimprinting disease; defect in the paternal genespaternal chromosome 15

Flashcard 6: X-linked recessive

Answer: yes, but only through females

Extra: many more males affectedno male-to-male transmission

Flashcard 7: cystic fibrosis (CF)

Answer:

Extra: defective Cl- channel leads to thick mucus that is difficult to clear, and promotes infectionrecurrent pulmonary infections, chronic bronchitis, bronchiectasis, pancreatic insufficiency, nasal polyps, meconium ileus, infertility in malesincreased [Cl-] in sweat testN-acetylcysteine, mucus clearing exerciseswhitesARCFTR

Flashcard 8: What is the most common lethal genetic disease in whites?

Answer: cystic fibrosis

Flashcard 9: Duchenne's muscular dystrophy (DMD)

Answer:

Extra: accelerated muscle breakdownweakness beginning in pelvis and progressing superiorly, pseudohypertrophy of calf muscles, use of Gower maneuver to standincreased serum CPK (creatinine kinase)cardiac myopathyXRDMD (dystrophin)

Flashcard 10: How do Duchenne's and Becker's muscular dystrophies differ clinically?

Answer: DMD more severe and earlier onset (<5 y/o) BMD less severe and later onset (adolescence or early adulthood)