What is the mode of inheritence of Joubert syndrome?_____
#2
The findings in Edwards Syndrome may be remembered with PRINCE Edward: - P_____- Rocker-bottom feet- Intellectual disability- Nondisjunction- Clenched fists with overlapping fingers- low-set Ears
#3
_____ is an autosomal trisomy that is associated with rocker-bottom feet and microphthalmia.
#4
_____ is an autosomal trisomy that is associated with cleft lip (face) and cleft palate (face).
#5
Persistent hyperplastic primary vitreous (PHPV) is associated with _____.
#6
What is the most common cause of genetic mental retardation?
#7
Characteristic clinical findings in Phenylketonuria: No answer _____
#8
The abnormality of _____ syndrome is arterio-hepatic dysplasia
#9
Type II tyrosinemia will present with features such as _____ and palmoplantar keratoderma/plaques
#10
The majority of cases of _____ syndrome are caused by de novo mutations in meCP2
Multifactorial Inheritance Disorders US Medical PG Flashcards - Medical Study Cards
Master Multifactorial Inheritance 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.
Flashcard 1: What is the mode of inheritence of Joubert syndrome?_____
Answer: Autosomal recessive
Flashcard 2: The findings in Edwards Syndrome may be remembered with PRINCE Edward: - P_____- Rocker-bottom feet- Intellectual disability- Nondisjunction- Clenched fists with overlapping fingers- low-set Ears
Answer: rominent occiput
Flashcard 3: _____ is an autosomal trisomy that is associated with rocker-bottom feet and microphthalmia.
Answer: Patau Syndrome (Trisomy 13)
Flashcard 4: _____ is an autosomal trisomy that is associated with cleft lip (face) and cleft palate (face).
Answer: Patau Syndrome (Trisomy 13)
Flashcard 5: Persistent hyperplastic primary vitreous (PHPV) is associated with _____.
