True/False
Fragile X is the most common known inherited form of ID
True
How accurate is the genetic test for FXS?
100%
What is the physical difference between a normal chromosome and the Fragile X chromosome?
there is a gap at the tip
Can females have a full mutation and not develop FXS?
yes
What are people called with a premutation of CGG?
carriers
Females are more affected by fragile x
false
How often are males with a full mutation affected?
almost always (much more than females)
Name three physical characteristics common in people with fragile x
large protruding ears, broad forehead, flat feet, loose joints, strabismus, scoliosis, large testicles
What's the ratio of people who have fragile x that also have autism?
1 in 3
Why cant fathers pass fragile x down to their sons?
because they only contribute the Y chromosome
Comorbidity is uncommon with individuals in fragile x
false
How many copies of CGG would someone need for it to be a full mutation?
greater than 200
Name one of the two subphenotypes
obesity and overgrowth
Name 2 psychiatric comorbidities associated with fragile x
anxiety, shyness, learning difficulties, and behavioral problems (aggression & autistic behavior)
What is the range of CGG copies that signifies a premutation carrier?
55-200
Males with fragile x are at a higher risk of developing FXPOI
false
What part of a female's body with fragile x is at risk?
ovaries
What are the dental health care needs common in fragile x?
cavities and malocclusion (misalignment)
blood sample or cheek swab
Name 3 symptoms of people with FXTAS (fragile X associated tremor/ ataxia syndrome)
balance problems, parkinsonism (resting tremors), short-term memory problems, mood instability, executive function problems (skills/ decision making), numbness/tingling of the extremities, cognitive decline, impotence/ loss of bladder or bowel functions, high blood pressure, thyroid disorders, & fibromyalgia
Permutation carriers have an increased risk of twin births
true
What are the four stages of CGG copies?
Normal, intermediate/ gray zone, permutation, full mutation
What kind of neurological characteristic are people with fragile x affected by?
seizures
What are the three factors that the effect of FXS depends on?
the FMR1 gene mutation, gender of parent who passes the FXS gene, and gender of the patient
What is the percentage of males with FXS that develop FXTAS (fragile x associates ataxia syndrome) after the age of 80?
75%