Genetics Flashcards
1
Q
Phenylketonuria (PKU)
A
- metabolic disorder
- severe retardation, seizures, aggression, autism, and hyperactivity
- phenotype: blonde hair, blue eyes, flat footed
- on the newborn screen
2
Q
Trisomy 18 (Edward’s Syndrome)
A
- looks like: microstomia, IUGR, microcephaly (small everything)
- most do not live to reach 1 year old
3
Q
DiGeorge Syndrome (Velocardiofacial Syndrome) (22q11.2 deletion syndrome)
A
- parathyroid, thymus, and conotruncal region of the heart
- sunken eyes, micrognathia
- cognitive and psych problems, aortic arch abnormalities
4
Q
Waardenburg Syndrome
A
- deafness and retardation
- brilliant blue eyes and white forelocks
5
Q
Tay-Sachs disease
A
- Ashkenazi Jews
- normal at birth, decline at 3-6 months
- decreased muscle tone, CHERRY RED MACULA, listlessness, blindness, deafness, seizures, dementia, vegetative state, and death
6
Q
Marfan syndrome
A
- tall, thin, and lanky with problems with eyes
- aortic aneurysm is common
7
Q
XO Karotype (Turner’s Syndrome)
A
- “puffy babies”, webbed neck, lymphedema, shield-shaped chest
- learning disabilities
- coarctation of aorta, hypertension
8
Q
Klinefelter’s Syndrome (XXY syndrome)
A
- infertility, hypogonadism, tall, gynecomastia
- learning disability, personality impairment
9
Q
Brushfield spots
A
- white flecks in iris
- common in Down Syndrome
10
Q
Trisomy 21 (Down Syndrome)
A
- microcephaly, flat nose, wide set eyes, inner epicanthal folds, protruding tongue, hypotonia
- seizures, septal defect, obesity, leukemia, dementia, diabetes
11
Q
Galactosemia
A
- metabolic disorder
- liver dysfunction, coagulopathies, sepsis
- “Maple syrup” smell to urine
- on the newborn screen
12
Q
Risk factors for genetic disease
A
- mom and/or dad over age 35
- family history of defects, MR, delayed growth, neuro disease, seizures
- fetal exposure to meds, toxins, radiation, infection, illegal substances
- ethnic background
