Genetics Flashcards
A 6 month-old boy with Down syndrome has just joined your practice, and you are reviewing his routine screening for associated medical risks.
What is the most common endocrine complication of Down syndrome?
Question 1Select one:
a.
Hyperthyroidism
b.
Pituitary insufficiency
c.
Hypothyroidism
d.
Hypo-aldosteronism
Hypothyroidism
You see a 14-year-old boy who is on the 95th percentile for height, 50th percentile for weight and has recently been diagnosed with Marfan syndrome. You wish to see him regularly to screen for complications.
What is the most serious cardiovascular complication of Marfan syndrome?
Question 2Select one:
a.
Pulmonary hypertension
b.
Mitral regurgitation
c.
Myocardial infarction
d.
Dissection of the aorta
Dissection of the aorta
What is the common pathogenetic feature of all autosomal dominant conditions?
Question 3Select one:
a.
Abnormal expression of normal alleles of the gene
b.
Pathogenic variants are found on multiple genes
c.
A single allele of the gene has a pathogenic variant
d.
Both alleles of the gene have pathogenic variants
A single allele of the gene has a pathogenic variant
What is common to the pathogenesis of most autosomal recessive conditions?
Question 4Select one:
a.
Chromosomal translocation
b.
Structural proteins are affected
c.
Deficiency of protein or action
d.
Promoter site methylation
Deficiency of protein or action
Bronwyn, a 24 year-old patient of yours in excellent health, presents to you as she is pregnant, and is worried that she might be a carrier for cystic fibrosis. Her sister has had a child with cystic fibrosis (homozygous for deltaF508, the most common cystic fibrosis mutation).
WHICH ONE of the following is the MOST ACCURATE pre-test probability that Bronwyn is a carrier of cystic fibrosis?
Question 5Select one:
a.
100%
b.
33%
c.
50%
d.
67%
50%
WHICH ONE of the following conditions is inherited in an X-linked recessive pattern?
Question 6Select one:
a.
Duchenne’s muscular dystrophy
b.
Cystic fibrosis
c.
Thalassaemia major and minor
d.
Osteogenesis imperfecta
Duchenne’s muscular dystrophy
John (5 yrs) is found to have a rare inherited disease. The same disease has been diagnosed in his grandfather, Ian. All other family members shown in the tree are free of the disease clinically.
If Mary and Robert have another daughter, she has a one in two chance of being a carrier for the disease.
X-linked recessive, Mary must carry
Rachel has a child with Down Syndrome. She is concerned about the likelihood of recurrence of Down syndrome in her next child. What characteristic of Rachel would give her the highest risk of having a further baby with Down syndrome?
Question 8Select one:
a.
Had a previous child with Turner Syndrome
b.
Balanced translocation chromosome 21
c.
Advanced maternal age more than 40 years
d.
Exhibits single palmar creases on both hands
Balanced translocation chromosome 21
Children with Down syndrome are susceptible to obstructive sleep apnoea (OSA). What is the craniofacial feature most commonly associated with OSA in Down syndrome?
Question 9Select one:
a.
Macroglossia
b.
Micrognathia
c.
Choanal atresia
d.
Cleft lip & palate
Macroglossia
Big tongue
A child (Person 5 in Generation III in the pedigree below) attends clinic with a family history of individuals affected and unaffected by a rare, late onset condition, as shown in the pedigree. Study this pedigree and answer the question below.
Ped shows high frequency, both genders affected
Autosomal dominant
with incomplete penetrance!
Which ONE of the following IS NOT a chromosomal disorder?
Question 11Select one:
a.
Klinefelter Syndrome
b.
Turner Syndrome
c.
Down Syndrome
d.
Noonan Syndrome
Noonan
