Down Syndrome and PWS Flashcards
1
Q
Trisomy 21 causes DS in ________ of patients
A
95%
2
Q
Unbalanced translocation between chromosome 21 and other acrocentric chromosomes causes _________ of DS
A
3-4%
3
Q
Mosaic Trisomy 21, which is a mixture of normal cells and cell containing trisomy 21, causes DS in _________ of patients.
A
1-2%
4
Q
________ occurs in 1/10 patients with DS
A
Autism
5
Q
In DS, the average IQ is ___________
A
50
6
Q
What is the chromosome associated with PWS?
A
Chromosome 15 from the paternal allele
7
Q
What is the recurrent risk for a woman who has had a Downs baby?
A
1/100 + age related risk
8
Q
15q duplications that are paternally derived will show a __________
A
Normal phenotype
9
Q
Besides Angelmans and PWS, 15q deletions have been associated with ___________
A
Autism
