Genetics Flashcards Preview

AANP FNP: Pediatrics > Genetics > Flashcards

Flashcards in Genetics Deck (12):
1

Phenylketonuria (PKU)

- metabolic disorder
- severe retardation, seizures, aggression, autism, and hyperactivity
- phenotype: blonde hair, blue eyes, flat footed
- on the newborn screen

2

Trisomy 18 (Edward's Syndrome)

- looks like: microstomia, IUGR, microcephaly (small everything)
- most do not live to reach 1 year old

3

DiGeorge Syndrome (Velocardiofacial Syndrome) (22q11.2 deletion syndrome)

- parathyroid, thymus, and conotruncal region of the heart
- sunken eyes, micrognathia
- cognitive and psych problems, aortic arch abnormalities

4

Waardenburg Syndrome

- deafness and retardation
- brilliant blue eyes and white forelocks

5

Tay-Sachs disease

- 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

Marfan syndrome

- tall, thin, and lanky with problems with eyes
- aortic aneurysm is common

7

XO Karotype (Turner's Syndrome)

- "puffy babies", webbed neck, lymphedema, shield-shaped chest
- learning disabilities
- coarctation of aorta, hypertension

8

Klinefelter's Syndrome (XXY syndrome)

- infertility, hypogonadism, tall, gynecomastia
- learning disability, personality impairment

9

Brushfield spots

- white flecks in iris
- common in Down Syndrome

10

Trisomy 21 (Down Syndrome)

- microcephaly, flat nose, wide set eyes, inner epicanthal folds, protruding tongue, hypotonia
- seizures, septal defect, obesity, leukemia, dementia, diabetes

11

Galactosemia

- metabolic disorder
- liver dysfunction, coagulopathies, sepsis
- "Maple syrup" smell to urine
- on the newborn screen

12

Risk factors for genetic disease

- 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