Boy with cystic fibrosis - what is the chance his sister is a carrier of CF?
A) 1/4
B) 2/3
C) 1/2
D) No chance
B) 2/3
What is the inheritance pattern of the following: short girl, learning difficulties, webbed neck.
a) Karyotype XO
b) X linked recessive
c) X linked dominant
d) Autosomal dominant
a) karyotype XO
What is the inheritance pattern of the following: 21 month boy pulls to stand on furniture, cannot walk, normal tone, history of cousin with disability
a) Karyotype XO
b) X linked recessive
c) X linked dominant
d) Autosomal dominant
b) X linked recessive
Baby was under CPP and came with smooth philtrum and learning difficulties with thin upper lip. Diagnosis?
a) Fetal alcohol syndrome
b) Prader Willi syndrome
c) Phenytoin syndrome
a) Fetal alcohol syndrome
What is the chance of a patient with sickle cell disease at risk of having another affected child with SCD?
1/4
What is the chance of a father with haemophilia A having an affected boy?
Population risk
What is the risk of having a carrier sibling for a family with affected cystic fibrosis child?
2/3
What is the karyotype of a tall boy with undeveloped secondary sexual characteristics with mild learning difficulty?
47 XXY (Kleinefelter syndrome)
Girl whose height is on 0.2% centile and weight is on 25% centile with mild learning disability. What is the next genetic investigation?
Karyotyping
18 yo female student pregnant at 8 weeks with cystic fibrosis. Husband is not affected with no FHx of CF. She wants to continue pregnancy and wants to know if the baby will be affected. What is your advice?
a) Wait for neonatal screening
b) Screen father for most common mutation of CF
c) Amniocentesis
d) Chorionic villous sampling
e) DNA after delivery
b) Screen father for most common mutation of CF
11 yo with Down’s syndrome playing football has a short stature without previous follow up. What is the next best investigation?
a) Cervical XR
b) TFT
c) blood film
d) Coeliac screening
b) TFT
Boy with CF, what is the chance of carrier for his sibling?
2/3
What is the inheritance pattern of a boy with delay in walking, hypotonia and uncle using wheelchair? Examination otherwise normal.
X linked recessive (likely Becker’s muscular dystrophy)
What is the inheritance pattern of a short girl whose height is on 0.4th centile (mid parental height 25th centile) with no obvious feature?
XO - Turner’s syndrome
What is the risk of having an affected baby for a well parent to have a son with sickle cell disease?
1/4
What is the genetic cause for Prader Willi syndrome?
Imprinting
loss of function of specific genes on the paternal copy of chromosome 15
What is the mode of inheritance for myotonic dystrophy?
Autosomal dominant
What is the inheritance pattern of rickets in a child whose mother has genu valgum?
X-linked dominant (X -linked dominant hypophosphataemic rickets)
What is the best investigation to do for a girl with short stature and learning disability?
Karyotyping
Boy with gynaecomastia, small testicles and tall stature. Diagnosis?
Kleinefelter syndrome - 47 XXY
Girl with tachycardia narrow complex HR > 300. What drug would you give?
a) Propranolol
b) Digoxin
c) Adenosine
d) Amiodarone
c) Adenosine
12-days old baby girl with 2 days deterioration and lethargy poor feeding
lymphedema in (hands or feet) weak femoral pulsations murmur 2/6
with normal heart sounds. CRT = 3, on 100% O2 but no oxygen saturation
can be recorded. What drug to give?
a) Prostaglandin infusion
b) IV Abx
c) IV Aciclovir
d) Dopamine
a) Prostaglandin infusion
Girl with clinical feature and recent diagnosis of rheumatic fever, what investigation to rule out/in diagnosis?
a) ASOT
b) echo
c) blood culture
d) throat swab
a) ASOT
Infection treated with antibiotics with joint pain. Heart murmur. What is the diagnosis?
Mitral stenosis
Mitral valve prolapse
AS
PS
Mitral valve prolapse