Genetics Flashcards
All of the genetic conditions covered in the year 3 genetics teaching (excluding haemtological conditions) are autosomal dominant EXCEPT…
Fragile X
Digeorge
Cystic Fibrosis
Duchennes muscular dystrophy
What is the inheritance pattern for fragile x?
x-linked dominant
What is the inheritance pattern for cystic fibrosis?
Autosomal recessive
What is the inheritance pattern for duchennes muscular dystrophy?
X-linked recessive
What is the cardiac anomaly associated with downs syndrome?
VSD (Harsh, pancystolic)
ASD (Split S2)
What is the cardiac anomaly associated with marfan’s syndrome?
Aortic dissection
What is the cardiac anomaly associated with william’s syndrome?
Supra-valvular aortic stenosis
What is the cardiac anomaly associated with Noonan’s syndrome?
Pulmonary stenosis
What is the cardiac anomaly associated with Turner’s Syndrome?
Coarctation of the aorta
What condition arises from trisomy 13?
Patau’s
What condition arises from trisomy 18?
Edwards
What condition arises from trisomy 21?
Downs
What is the Turner’s Karyotype
45XO
What is the kleinfelter’s karyotype?
47XXY
What is the mutation associated with DiGeorge?
22q11
What is the genetic mutation associated with myotonic dystrophy?
CTG repeat
What is the genetic mutation associated with Huntington’s
CAG expansion
What are the genes associated with Lynch Syndrome?
MLHL, MSH2, MSH6, PMS2, and EPCAM
What is the genetic mutation associated with Prader Willi?
Paternal loss of imprinted genes on chromosome 15
name the condition:
Males with this disorder may have larger than normal breasts, a lack of facial and body hair, a rounded body type, and small testicles.
Kleinfelter’s
name the condition:
impaired sense of smell with a hormonal disorder that delays or prevents puberty.
Kallmanns
Name the condition:
Excessive hunger
Learning difficulties and behavioural challenges
Prader-Willi
Name the condition:
Associated with heart defects, cleft lip and learning difficulties. The severity of the condition varies. Some children can be severely ill and very occasionally may die from it, but many others may grow up without realising they have it.
DiGeorge
Name the condition:
delayed development, problems with speech and balance, intellectual disability, and,
smile and laugh frequently, and have happy, excitable personalities.
Angelman
Name the syndrome:
severely disrupts normal development
In many cases, results in miscarriage, stillbirth or the baby dying shortly after birth.
Patau’s
Name the condition:
low birth weight and certain abnormal features. These include a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; and heart, lung, kidney, intestine, and stomach defects.
In many cases, results in miscarriage, stillbirth or the baby dying shortly after birth.
Edwards
Name the condition:
Single palmar crease, medial epicanthal folds, low set ears and flat nose
Downs
Name the condition:
Elfin features & widely spaced teeth
Learning disability
William’s Syndrome
