Prader-Willi and Angelman syndromes US Medical PG Flashcards - Medical Study Cards
Master Prader-Willi and Angelman syndromes with OnCourse flashcards. These spaced repetition flashcards are designed for medical students preparing for NEET PG, USMLE Step 1, USMLE Step 2, MBBS exams, and other medical licensing examinations.
Prader-Willi and Angelman syndromes Flashcard Deck - 10 Cards
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: Enzyme deficiency and inheritance of Hunter syndrome?
Answer: Enzyme deficiency: Iduronate sulfatase
Inheritance: X-linked recessive (XR)
Extra: - Accumulation of heparan sulfate and dermatan sulfate.
- Clinical features: Developmental delay, gargoylism, airway obstruction, hepatosplenomegaly.
- Distinctive features: Aggressive behavior, NO corneal clouding (unlike Hurler syndrome).
Flashcard 5: What is the enzyme deficiency in Hurler's syndrome?
Answer: Deficiency of α-L-iduronidase
Extra: • Inheritance: Autosomal Recessive (AR)
• Accumulation of: Heparan sulfate and Dermatan sulfate
• Clinical Features: Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly.
Flashcard 6: What manifestation of 22q11 deletion syndrome define velocardiofacial syndrome?
Answer: cardiac, palate, facial defects
Flashcard 7: What is the genetic defect in Williams syndrome?
Answer: 7q11.23 microdeletion (including elastin gene)
Extra: Characteristics of Williams Syndrome:
- Elfin facies
- Intellectual disability (mild retardation)
- Hyper-verbal / Cocktail party personality (hyper-friendly)
- Cardiovascular problems: Supravalvular aortic stenosis (SVAS)
- Idiopathic hypercalcemia in infancy
Flashcard 8: Clinical features and genetic defect in Prader-Willi syndrome?
Answer: Mental retardation, hyperphagia, obesity, hypogonadism, hypotonia
Extra: Paternal deletion or mutation on chromosome 15 (15q11-q13). Since the maternal copy is normally silenced (imprinted), the loss of the paternal allele leads to disease.
Flashcard 9: Is there male-to-male transmission in X-linked recessive disorders?
Answer: No male-to-male transmission (only through females) :: Can affected males transmit the disease to their sons?
Extra: X-linked recessive inheritance:
- More males affected than females.
- No male-to-male transmission (males pass Y to sons).
- All daughters of an affected male are obligate carriers.
- Skips generations (transmission via carrier females).
Flashcard 10: What is the basic pathogenesis and inheritance of cystic fibrosis (CF)?
Answer: Defect in CFTR gene (Autosomal Recessive) leading to defective chloride channels.
Extra: Features: Recurrent pulmonary infections, chronic bronchitis, bronchiectasis, pancreatic insufficiency, meconium ileus, infertility in males (absent vas deferens).
Diagnosis: Increased [Cl-] in sweat test.
Treatment: N-acetylcysteine, mucus clearing exercises, CFTR modulators.
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