Mitochondrial Disorders — Flashcards

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: Morquio syndrome (MPS IV)

Flashcard 6: _____ disease is also known as infantile cortical hyperostosis.

Answer: Caffey s

Flashcard 7: What is the most common genetic cause of intellectual disability (mental retardation)?

Answer: Down syndrome (Trisomy 21)

Extra: - Most common **genetic/chromosomal** cause: Down syndrome. - Most common **inherited** cause: Fragile X syndrome.

Flashcard 8: Characteristic clinical findings in **Phenylketonuria** include a _____ odor, hypopigmentation (fair skin/blue eyes), and intellectual disability.

Answer: musty or mousy

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