fragile_x_syndrome_flashcards

Question 1

What type of disorder is Fragile X syndrome?

Answer 1

A trinucleotide repeat disorder.

Question 2

What are the features of Fragile X syndrome in males?

Answer 2

Learning difficulties, large low set ears, long thin face, high arched palate, macroorchidism, hypotonia, autism is more common, mitral valve prolapse.

Question 3

What are the features of Fragile X syndrome in females?

Answer 3

Features range from normal to mild.

Question 4

How is the diagnosis of Fragile X syndrome made?

Answer 4

By analysis of the number of CGG repeats using restriction endonuclease digestion and Southern blot analysis.

Question 5

What prenatal tests can diagnose Fragile X syndrome?

Answer 5

Chorionic villus sampling or amniocentesis.

Question 6

What genetic analysis methods are used to diagnose Fragile X syndrome?

Answer 6

Restriction endonuclease digestion and Southern blot analysis.