Genetics Flashcards
1
Q
Syndromes resulting from mutation / deletion of genes on chromosome 15
A
Prader-Willi syndrome
Angelman syndrome
2
Q
Elfin facies well-developed verbal skills extreme friendliness with strangers hypercalcemia CV problems intellectual disability
A
Williams syndrome
3
Q
2nd most common cause of genetic intellectual disability (after Down’s)
A
Fragile X syndrome
4
Q
presents with eXtra large testes, jaw and ears
A
fragile X syndrome
5
Q
x-linked disorder seen almost exclusively in girls because boys die in utero
A
Rett disorder
6
Q
22q11 syndrome
A
CATCH-22 Cardiac abn (TA, TOF) Abn facies Thymus aplasia Cleft palate Hypercalcemia / hyperparathyroidism
7
Q
common medical conditions with polygenic inheritance
A
androgenetic alopecia epilepsy glaucoma HTN DM type 2 ischemic heart disease schizophrenia
8
Q
defect in HNPCC / Lynch
A
DNA mismatch repair
