Genetics

Question 1

Pathology of Downs syndrome

Answer 1

Trisomy 21

usually meiotic non-dysjunction

Question 2

incidence of Downs syndrome

Answer 2

1/1000

increased risk with increasing maternal age

Question 3

Symptoms and Signs of downs syndrome

Answer 3

learning difficulties
Dysmorphic features: Round face, flat occiput, protruding tongue, epicanthic folds, up slanting palpebral fissures, brush field spot in iris, single palmar crease, reduced tone, sandal gap

Question 4

Ix downs syndrome

Answer 4

Chromosomes, echo, TFTs, tissue transglutaminase

Question 5

Rx downs syndrome

Answer 5

developmental/ learning support

Question 6

Cx of Downs syndrome

Answer 6

Hypothyroidism
congenital hear disease
leukaemia
duodenal atresia
coeliac disease
hearing/ visual impairment
alzheimers disease

Question 7

life expectancy downs syndrome

Answer 7

50

Question 8

which congenital heart disease is most common in downs syndrome?

Answer 8

atrioventricular septal defect (AVSD)

Question 9

TURNERS Syndrome what is it?

whats going on genes wise

Answer 9

45 X0

only 1 X chromosome

Question 10

Turners male or female?

Answer 10

female

Question 11

signs and symptoms of turners syndrome

Answer 11

oedematous hands and feet as neonates,
 short stature, 
webbed neck, 
widely spaced nipples,
 wide carrying angle, 
horseshoe kidney
normal IQ

Question 12

Ix Turners syndrome

Answer 12

chromosome karyotyping

echo

Question 13

Cx of turners syndrome

Answer 13

coarctation of Aorta

infertility

Question 14

Kleinfelter’s syndrome genetics

Answer 14

47 XXY

Question 15

Kleinfelter’s syndrome male or female?

Answer 15

undervirilized males

Question 16

what happens in Kleinfelter’s syndrome

Answer 16

undervirilized  males
tall stature
hypogonadism
small testes
gynaecomastia
behavioural problems

Question 17

Ix in Kleinfelter’s syndrome

Answer 17

Chromosome karyotype

Question 18

Cx Kleinfelter’s syndrome

Answer 18

infertility

Question 19

pathology of Fragile X

Answer 19

x linked recessive

Question 20

fragile X male or female?

Answer 20

male

Question 21

fragile X is second most common cause of …. after trisomy 21

Answer 21

congenital learning difficulties

Question 22

Si and Sy of fragile X

Answer 22

low IQ, prominent ears, enlarged testicles

Question 23

what does VACTERL syndrome stand for?

Answer 23

V stands for vertebrae, which are the bones of the spinal column.

A stands for imperforate anus or anal atresia, or an anus that does not open to the outside of the body.

C is added to the acronym to denote cardiac anomalies.

TE stands for tracheoesophageal fistula, which is a persistent connection between the trachea (the windpipe) and the esophagus (the feeding tube).

R stands for renal or kidney anomalies.

L is often added to stand for limb anomalies (radial agenesis).

Question 24

what is marfans syndrome?

Answer 24

genetic disorder of the connective tissue

Question 25

how do people with marfans syndrome appear?

Answer 25

tall thin long arms legs finger and toes