Genetics Flashcards
What can happen to the heart when someone has downs?
Atrioventicular septal defects
What percentage of cases of Downs have atrioventricular septal defects?
15%
What type of mutation is |Downs?
copy number variation
trisomy 21
What is a warning sign that can be seen in an ultrasound for downs and heart disease?
Nuchal translucency
What is a cystic hygroma?
A cystic hygroma is a cyst, or a group of cysts, found mostly in the neck. They are caused by an error in the development of lymph sacs and lymph vessels as the baby develops during pregnancy.
What are the cardiac implications for turners syndrome?
Coarctication of aorta
What are the cardiac implications for Noonan syndrome?
Pulmonary stenosis
What gene is responsible for Noonan syndrome?
PTPN11
What are the cradiac implications of costello syndrome?
Cardiomyopathy
What are the cardiac implications for 22q11 deletion syndrome?
Cardiac malformation
What does 22q11 deletion syndrome encompass?
Digeorge
Shprintzen
what are the cardiac implications of Williams syndrome?
Aortic stenosis
What are some cardiovascular connective tissue disease?
- Marfan
- Loeys-Dietz
- Ehlers Danlos
- FTAA
What is the inheritance type of Marfan Syndrome?
-Autosomal Dominant
What gene and chromosome is affected in Marfans?
- Fibrillin 1 gene
- Chromosome 15q21
