clinical genetics part 1

Question 1

what is a malformation ?

Answer 1

cause by abnormal development of the organ/tissue that is abnormal from the beginning

Question 2

what is disruption ?

Answer 2

a destructive process , but was initially started normally

Question 3

what is deformation ?

Answer 3

abnormal physical force

Question 4

what is dysplasia ?

Answer 4

abnormal organization of the cells

Question 5

when does a malformation happen ?

Answer 5

before 10 weeks gestation

Question 6

what is potter’s sequence ?

Answer 6

child usually has a family history of some sort of kidney disease
child has bilateral renal agenesis or multicystic dysplasia in the kidneys
low set ears

Question 7

what is VATER association ?

Answer 7

vertebral anomalies
anal affection
Tracheo esophageal
radial or renal affection

Question 8

what is the genetic abnormality inn edwards syndrome ?

Answer 8

trisomy 18

Question 9

what is the genetic abnormality in patau syndrome ?

Answer 9

trisomy 13

Question 10

what is the presentation of prader willi syndrome ?

Answer 10

almond shaped eyes
baby is never full
epicanthal folds
overweight baby

Question 11

what is the aetiology of neural tube defects?

Answer 11

multifactorial / polygenic

Question 12

what are the features of MPS I ?

Answer 12

coarse features
corneal clouding
( hurle )

Question 13

which disease is known for having a downward palpebral fissure ?

Answer 13

noonan syndrome

Question 14

what is the differential diagnosis for low set ears ?

Answer 14

potter’s sequence

Down syndrome

Question 15

what disease presents with cafe au lait spots ?

Answer 15

neurofibromatosis

Question 16

what disease is associated with talipes equinovarus ?

Answer 16

spina bifida

Question 17

what investigation must be done with a patient presenting with coarse features ?

Answer 17

suggestive of lysosomal storage disease

perform a metabolic screening test