Fragile X syndrome US Medical PG Flashcards - Medical Study Cards
Master Fragile X syndrome 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.
Fragile X syndrome Flashcard Deck - 10 Cards
Flashcard 1: -thalassemia due to a four gene deletion causes _____ (lethal in utero)
Answer: hydrops fetalis
Flashcard 2: What newborn screening blood test is used to screen for cystic fibrosis? _____
Answer: Immunoreactive trypsinogen
Flashcard 3: _____ syndrome is a rare genetic disorder characterized by a failure to complete puberty
Answer: Kallmann
Flashcard 4: What is the most common cause of genetic intellectual disability? _____
Answer: Down syndrome
Flashcard 5: Rett syndrome presents with _____, including loss of development and verbal abilities
Answer: regression
Flashcard 6: Hunter's syndrome
Answer:
Extra: accumulation of heparan/dermatan sulfate mild: developmental delay, gargoylism, airway obstruction, hepatosplenomegaly
+ aggressive behavior
- corneal clouding
XR iduronate sulfatase
Flashcard 7: Hurler's syndrome
Answer:
Extra: accumulation of heparan/dermatan sulfate developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly AR α-L-iduronidase
Flashcard 8: What manifestation of 22q11 deletion syndrome define velocardiofacial syndrome?
Answer: cardiac, palate, facial defects
Flashcard 9: Williams syndrome
Answer:
Extra: elfin facies, mild retardation, hyper-verbal, hyper-friendly, diverse cardiovascular problems hypercalcemia 7q microdeletion (including elastin gene)
Flashcard 10: Prader-Willi syndrome
Answer:
Extra: mental retardation, hyperphagia, obesity, hypogonadism, hypotonia imprinting disease; defect in the paternal genes paternal chromosome 15
Keywords: Fragile X syndrome flashcards, medical flashcards, NEET PG preparation, USMLE Step 1 flashcards, Anki alternative, spaced repetition medical, OnCourse flashcards
