Genetics Flashcards
1
Q
Fragile X phenotype
A
Long thin face
Protuberant ears
Language delay
Active
2
Q
Williams syndrome
A
Supravalvar aortic stenosis Hypercalcemia Hypothyroidism Diabetes mellitus Nephro anomalies ADHD, dev delay, happy personality Short stature
3
Q
Trisomy 13 vs 18
A
13 Patau : midline defects (cleft palate), renal, cardiac, polydactily
18 Edwards: small size, cardiac, overlapping index and little finger.
4
Q
Fragile X genetic findings
A
> 200 CGG repetitions on X chromosome
