Week 5: Arcadia Medical Genetics Flashcards
First-line test for children with global DD/ID/ASD of unknown cause
Fragile X DNA analysis, microarray
Inheritance of Fragile X syndrome
XLR
Gene for Fragile X syndrome
FMR1
Trinucleotide repeat in Fragile X
CGG
3 major clinical features of Fragile X
Variable ID, ASD, attention/anxiety problems
Dysmorphic features in Fragile x
Long face, prominent ears, enlarged testicles
Fragile X premutation carriers are at risk for
FXPOI, FXTAS
Fragile X premutation repeat number
55-200
Fragile X full mutation repeat number
200+
CGG repeats in Fragile X are more likely to expand if passed through mom or dad?
Mom
Inheritance of Marfan Syndrome
AD
Gene in Marfan syndrome
FBN1
3 major features of Marfan Syndrome
Cardio: aortic root dilation, skeletal: tall/pectus/scoliosis, Eye: ectopic lentis
Lung and CNS manifestations of Marfan syndrome
Pneumothorax, dural ectasia
What gene deletion in 22q11 is most responsible for CHD
TBX1
3 common CHDs in 22q11
interrupted aortic arch, truncus arteriosus, ToF
What sign in pregnancy might make you suspicious of 22q11
polyhydramnios
3 major facial features in 22q11
Hooded eyelids, asymmetric crying facies, prominent nasal root
Endocrine abnormalities in 22q
Hypocalcemia, hypoparathyroidism
Most common psych illness in 22q
Schizophrenia
Inheritance of CF
AR
Gene for CF
CFTR
3 major features of CF
Pulmonary disease (recurrent infections), pancreatic insufficiency, CBAVD
Class I. II, III mutations
absent CFTR function, more severe, pancreatic insufficient
Class IV, V mutations
Partial CFTR function, less severe, pancreatic sufficient
WT/severe mutation with 7T or 9T tract
Unaffected carrier
WT/severe mutation with 5T tract
CBAVD
Mild/severe mutation with 9T tract
CBAVD
Mild/severe mutation with 5T tract
pancreatic sufficient CF
Positive sweat test
> 60 meq/L
Negative sweat test
<40 meq/L
Treatment for CF
Pancreatic enzymes, antibiotics, lung clearance techniques
