X-linked recessive conditions
The following conditions are inherited in a X-linked recessive fashion:
Androgen insensitivity syndrome
Becker muscular dystrophy
Colour blindness
Duchenne muscular dystrophy
Fabry's disease
G6PD deficiency
Haemophilia A,B
Hunter's disease
Lesch-Nyhan syndrome
Nephrogenic diabetes insipidus
Ocular albinism
Retinitis pigmentosa
Wiskott-Aldrich syndrome
The following diseases have varying patterns of inheritance, with the majority being in an X-linked
recessive fashion:
Chronic granulomatous disease (in > 70%)
External Links
GMC
GMC guidelines
,Question 1 of 410
A rapid finger-prick blood test to help diagnosis deep vein thrombosis is developed. Comparing the
test to current standard techniques a study is done on 1,000 patients:
DVT present DVT absent
New test positive 200 100
New test negative 20 680
What is the specificity of the new test?
680/880
200/220
680/780
680/700
200/300
,Question 1 of 410
A rapid finger-prick blood test to help diagnosis deep vein thrombosis is developed. Comparing the
test to current standard techniques a study is done on 1,000 patients:
DVT present DVT absent
New test positive 200 100
New test negative 20 680
What is the specificity of the new test?
680/880
200/220
680/780
680/700
200/300
Specificity = true negatives / (true negatives + false positives)
= 680 / (680 + 100)
Further reading Notes section
Screening test statistics
, Question 2 of 410
Which one of the following would shift the oxygen dissociation curve to the left?
Carboxyhaemoglobin
Acidosis
Raised pCO2
Pyrexia
Raised 2,3-DPG levels
The following conditions are inherited in a X-linked recessive fashion:
Androgen insensitivity syndrome
Becker muscular dystrophy
Colour blindness
Duchenne muscular dystrophy
Fabry's disease
G6PD deficiency
Haemophilia A,B
Hunter's disease
Lesch-Nyhan syndrome
Nephrogenic diabetes insipidus
Ocular albinism
Retinitis pigmentosa
Wiskott-Aldrich syndrome
The following diseases have varying patterns of inheritance, with the majority being in an X-linked
recessive fashion:
Chronic granulomatous disease (in > 70%)
External Links
GMC
GMC guidelines
,Question 1 of 410
A rapid finger-prick blood test to help diagnosis deep vein thrombosis is developed. Comparing the
test to current standard techniques a study is done on 1,000 patients:
DVT present DVT absent
New test positive 200 100
New test negative 20 680
What is the specificity of the new test?
680/880
200/220
680/780
680/700
200/300
,Question 1 of 410
A rapid finger-prick blood test to help diagnosis deep vein thrombosis is developed. Comparing the
test to current standard techniques a study is done on 1,000 patients:
DVT present DVT absent
New test positive 200 100
New test negative 20 680
What is the specificity of the new test?
680/880
200/220
680/780
680/700
200/300
Specificity = true negatives / (true negatives + false positives)
= 680 / (680 + 100)
Further reading Notes section
Screening test statistics
, Question 2 of 410
Which one of the following would shift the oxygen dissociation curve to the left?
Carboxyhaemoglobin
Acidosis
Raised pCO2
Pyrexia
Raised 2,3-DPG levels
