X-LINKED DOMINANT INHERITANCE/DISORDER Flashcards
1
Q
There are abou ____known x-linked disorders
A
300
2
Q
Fragile X Syndrome (FXS)
A
a genetic disorder characterized by mild-to-moderate
intellectual disability
3
Q
Fragile X Syndrome (FXS)
Physical features
A
long and narrow face, large ears,
flexible fingers, and large testicles
4
Q
Vitamin D-resistant rickets
A
a disorder in which the bones become painfully soft and
bend easily due to low levels of phosphate in the blood
5
Q
Vitamin D-resistant rickets
Symptoms usually begin in early c
A
hildhood and can
range in severity
6
Q
(previously called vitamin Dresistant rickets)
A
Hypophosphatemic rickets
7
Q
Alport’s Syndrome
A
a progressive kidney failure disorder
8
Q
Alport’s Syndrome
In 80% of cases, it is inherited in an X-linked manner and
is caused by mutations in the ____ gene.
A
COL4A5
