Peds Genetics Flashcards
What are the 3 types of point mutations?
- Silent
- Nonsense (STOP)
- Missense (codes for another protein)
Autosomal Dominant Pattern
50% of getting disorder
Autosomal recessive Pattern
25% of getting disorder (if both parents are carriers)
When is Maternal Serum Screening take place?
2nd Trimester (15-20 weeks)
When is technically Advanced maternal age?
> 35 years old
Omphalocele
Birth defect in which an infant’s intestine or other abdominal organs are outside of the body because of a hole in the belly button (navel) area
Polyhydraminos
defined as >2L of amniotic fluid
- associated with GI abnormalities
ex. duodenal atresia and omphalocele
Duodenal atresia
the congenital absence or complete closure of a portion of the lumen of the duodenum. It causes increased levels of amniotic fluid during pregnancy (polyhydramnios)
- Bilious vomiting
- Double Bubble sign on Xray**
Oligohydraminos
Associated with:
-Renal problems (ex. Horseshoe Kidney)
What is the most important maternal blood sample
Alpha-fetoprotein (aFP)
Increased levels:
- Anencephaly
- Spina bifida
Decreased levels:
- Trisomy 21 (Down Syndrome)
- Trisomy 18 (Edwards Syndrome)
Clindodactyly
Mild birth defect where the middle bone of the 5th digit is wedge shaped
(associated with Down’s)
Trisomy 21
- Hypotonia**
- Brushfield eye spots
- Sandal toe
- Simian crease*
- AV canal
- Duodenal atresia
- HIrschsprung
- Hypothyroidism
- Atlantoaxial instability*
Trisomy 18 (Edwards Syndrome)
- Clenched hand with overlapping fingers
- Rocker bottom feet**
- Small jaw
Turner’s syndrome (XO)
- Webbed neck
- low hairline
- Peripheral lymphedema**
- Coarctation of the aorta**
- Ovarian dysgenesis-amenorrhea
What is the best kind of testing to look for DiGeorge Syndrome
FISH (Fluoresence in Situ Hybridization)
