Genetic Disorders

Question 1

Arachnodactyly, scoliosis, and aortic root dilation are all signs of which genetic disorder?

Answer 1

Marfan syndrome

Question 2

Macroorchidism, large jaw, and intellectual disability are seen with what condition?

Answer 2

Fragile X syndrome

Question 3

What is the triad of Kartagener syndrome?

Answer 3

• Situs inversus
• Chronic sinusitis
• Bronchiectasis

Question 4

Which syndrome occurs 2’ to meiotic nondisjunction in mothers of advanced maternal age leading to defecting prechordal mesoderm fusion result in midline defects i.e., holoprosencephaly, microphthalmia, cleft lip/palate, and ompahlocele?

Answer 4

Patau syndrome (trisomy 13)

Question 5

The tendency for sx’s to worsen and/or occur earlier in subsequent generations is called what?

Answer 5

Anticipation

Question 6

Anticipation is commonly associated with what disorders?

Answer 6

Trinucleotide repeat disorders i.e., Fragile X syndrome, Myotonic Dystrophy, Huntington disease and Friedreich Ataxia

Question 7

Which trisomy is associated with micrognathia, low-set ears, prominent occiput, rocker bottom feet and clenched hands with overlapping fingers?

Answer 7

Trisomy 18 (Edwards syndrome)

Question 8

What are the 3 important mitochondrial (inherited) diseases?

Answer 8

• Leber hereditary optic neuropathy: leads to bilateral vision loss
• Myoclonic epilepsy w/ ragged-red fibers: myoclonic seizures and myopathy assoc. w/ excercise
• Mitochondrial encephalomyopathy w/ lactic acidosis and stroke-like episodes (MELAS)