Prader-Willi and Angelman syndromes — Flashcards

Flashcard 1: What pathology is characterized by inappropriate laughter, seizures, ataxia, and severe intellectual disability?_____

Answer: Angelman syndrome

Flashcard 2: Prader-Willi syndrome is characterized by _____ levels of ghrelin

Answer: increased

Flashcard 3: What trinucleotide repeat disorder is associated with autism?_____

Answer: Fragile X syndrome

Flashcard 4: Hunter's syndrome

Answer:

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

Flashcard 5: Hurler's syndrome

Answer:

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

Flashcard 6: What manifestation of 22q11 deletion syndrome define velocardiofacial syndrome?

Answer: cardiac, palate, facial defects

Flashcard 7: Williams syndrome

Answer:

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

Flashcard 8: Prader-Willi syndrome

Answer:

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

Flashcard 9: X-linked recessive

Answer: yes, but only through females

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

Flashcard 10: 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