Genetic conditions

Question 1

Tuberous sclerosis

Answer 1

9q34/16p13
autosomal dominant but most are spontaneous
1 in 30,000
-adenoma sebaceum, normal to severeMR, ash leaf macules, brain hamartomas ,heart and kidney cysts

Question 2

Treacher collins

Answer 2

5q31
-autosomal dominant
1 in 40,000
maxillomandibular hypoplasia, malformed pinna, down slanting palpebrae, mild to moderate MR

Question 3

Apert syndrome

Answer 3

10q
autosomal dominant
variable MR, cario synostosis, shallow orbits, trapezoid mouth, mitten hands and feet

Question 4

Noonan syndrome

Answer 4

Chromosome 12
Autosomal domiant
1 in 1500
-mild MR, short stature, nuchal oedema. webbed neck, pulmonary stenosis, cryptorchidism

Question 5

Hurler syndrome

Answer 5

4p16
autosomal recessive
1 in 100000
deteriorating IQ from age of 2, coarse facies, clouded cornea, joint stiffness

Question 6

Lesch-Nyan syndrome

Answer 6

Xq 26-27
X-linked recessive
deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase
-poor muscle control and moderate mental retardation by year 1
-self mutilating behaviours by year 2
-hyperuricemia and hyperuricosuria- severe gout and kidney problems- can present any time