Chromosomal Abnormalities Flashcards
1
Q
What should you check in a sports physical for a person with Down syndrome?
A
Atlanto-axial instability
2
Q
What congenital endocrine disease is common in Down’s?
A
Hypothyroidism
3
Q
What is a coloboma?
A
A hole in one of the structures of the eye.
4
Q
In which chromosomal abnormality is coloboma common?
A
Patau syndrome (trisomy 13)
5
Q
What does WAGR stand for?
A
Wilms tumor
Aniridia
GU anomalies
Retardation
6
Q
What is the chromosomal abnormality in WAGR?
A
11p13 deletion
7
Q
What other sign is present in WAGR syndrome?
A
Hemihypertrophy
8
Q
The cardiac anomalies of Turner’s?
A
Bicuspid aortic valve, coarctation of aorta
9
Q
Why are Beckwith-Wiedemann babies so big?
A
Beta cell hyperplasia
10
Q
Why do Beckwith-Wiedemann children need US every 6 mos until age 6?
A
Hi risk of abdominal tumors
