Multifactorial Inheritance Disorders — Flashcards

Flashcard 1: What is the mode of inheritance 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 _____.

Answer: trisomy 13 (Patau syndrome) (hereditary disorder)

Flashcard 6: 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 7: Characteristic clinical findings in **Phenylketonuria** include a _____ odor, hypopigmentation (fair skin/blue eyes), and intellectual disability.

Answer: musty or mousy

Flashcard 8: Van der Hoeve syndrome consist of the triad of _____, Otosclerosis and Blue sclera

Answer: Osteogenesis imperfecta

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