What is the mode of inheritence of Imerslund-Grasbeck syndrome?_____
#2
WAGR syndrome is a combination of: 1. _____ 2. Aniridia (absence of iris) 3. Genital abnormalities 4. mental or motor Retardation
#3
Alagille syndrome is associated with mutations in _____ gene in 90% of patients
#4
What is the mode of diagnosis of Duchenne muscular dystrophy?_____
#5
Which mucopolysaccharidosis is characterised by absence of hepatosplenomegaly and preservation of intelligence?_____
#6
_____ disease is also known as infantile cortical hyperostosis.
#7
What is the most common cause of genetic mental retardation?
#8
Characteristic clinical findings in Phenylketonuria: No answer _____
#9
The majority of cases of _____ syndrome are caused by de novo mutations in meCP2
#10
The abnormality of _____ syndrome is arterio-hepatic dysplasia
Mitochondrial Disorders US Medical PG Flashcards - Medical Study Cards
Master Mitochondrial Disorders 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.
Mitochondrial Disorders Flashcard Deck - 10 Cards
Flashcard 1: What is the mode of inheritence of Imerslund-Grasbeck syndrome?_____
Answer: Autosomal recessive
Flashcard 2: WAGR syndrome is a combination of: 1. _____ 2. Aniridia (absence of iris) 3. Genital abnormalities 4. mental or motor Retardation
Answer: Wilms tumor
Flashcard 3: Alagille syndrome is associated with mutations in _____ gene in 90% of patients
Answer: JAG1
Flashcard 4: What is the mode of diagnosis of Duchenne muscular dystrophy?_____
Answer: PCR
Flashcard 5: Which mucopolysaccharidosis is characterised by absence of hepatosplenomegaly and preservation of intelligence?_____
Answer: Morquios disease
Flashcard 6: _____ disease is also known as infantile cortical hyperostosis.
Answer: Caffey s
Flashcard 7: What is the most common cause of genetic mental retardation?
Answer: Down syndrome (trisomy 21)
Flashcard 8: Characteristic clinical findings in Phenylketonuria: No answer _____
Answer: :)
Flashcard 9: The majority of cases of _____ syndrome are caused by de novo mutations in meCP2
Answer: Rett
Flashcard 10: The abnormality of _____ syndrome is arterio-hepatic dysplasia
Answer: Alagille
Keywords: Mitochondrial Disorders flashcards, medical flashcards, NEET PG preparation, USMLE Step 1 flashcards, Anki alternative, spaced repetition medical, OnCourse flashcards
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