CVS Genetics Flashcards
What syndrome is associated with Trisomy 21?
Down Syndrome
How might trisomy 21 be detected in embryological development?
If there is nuchal translucency (increased fluid behind the embryo)
15% of individuals with trisomy 21 will have what cardiovascular genetic defect?
AV septal defect
What syndrome is also known as 45 X?
Turner Syndrome
What syndrome commonly presents with neck webbing, short stature and gonadal dysgenesis and only affects females?
Turner Syndrome
What syndrome commonly presents with short stature and neck webbing in both males and females?
Noonan Syndrome
What are the common presentations of Williams Syndrome?
- aortic stenosis
- hypercalcaemia
What syndrome is a result of a mutation of the PTPN11 gene on chromosome 12?
Noonan Syndrome
What syndrome presents with aortic coarctation and puffy hands and feet (oedema) at birth?
Turner Syndrome
In what syndrome would a baby present as being hypotonic and with an AV septal defect?
Down Syndrome
What syndrome might be present in a child who is very sociable with development delays and learning difficulties?
Williams Syndrome
Give some of the common presentations of Marfan Syndrome
- abdominal aortic aneurysm
- aortic dilation/dissection
- ectopia lentis
- dural ectasia
- mitral valve prolapse
- myopia
- scoliosis
- striae
What mutation results in Marfan Syndrome?
Mutation of the Fibrillin 1 gene
Ghent criteria is used to diagnose what syndrome?
Marfan Syndrome
What syndrome presents with syncope, ventricular fibrillation and sudden death?
Long QT Syndrome
