clinical genetics part 2

Question 1

what are the gennetic abnormalities that can cause DS ?

Answer 1

nondijunction
translocation
mosaicism

Question 2

what is the karyotyping for turner syndrome?

Answer 2

45 Xo

Question 3

what are th features of TUrner ?

Answer 3

short female 
shield shaped chest 
wide spaced nipples 
webbed neck 
coarctation of the aorta 
delayed puberty

Question 4

what is the hormonnal profile in turner ?

Answer 4

hypergonadotrophic hypogonadism
so FSH and LH are high
oestrogen is low

Question 5

what is the genetic abnormality in williams syndrome ?

Answer 5

7q microdeletion

Question 6

what is the CHD associated with williams ?

Answer 6

supravalvular Aortic stenosis

Question 7

what are the features associated with williams ?

Answer 7

transient hypercalcemia
flat nasal bridge
full cheeks and lips
long smooth philtrum

Question 8

what is the CHD associated with Di George Syndrome ?

Answer 8

conotruncal

Question 9

what are the features associated with Di george syndrome ?

Answer 9

cleft palate
t cell deficiency
renal anomalies
gypocalcemia

Question 10

what are the features of tuberous sclerosis ?

Answer 10

primary features :
facial angiofibroma
retinal astrocytoma 
subependymal nodule 
secondary features:
shagreen patch 
FDR 
renal cysts

Question 11

what is the method of inheritance of Tuberous sclerosis ?

Answer 11

autosomal dominant

Question 12

what are the gene mutations in tuberous sclerosis ?

Answer 12

hamartin
and tuberin
both tumor suppressor genes

Question 13

what are cafe au lait spots characteristic off ?

Answer 13

neurofibromatosis type 1

Question 14

what is the method of inheritance of NF1 ?

Answer 14

autosomal dominant

Question 15

what is the affected gene in NF1 ?

Answer 15

17 q

Question 16

what are the physical features associated with NF 1?

Answer 16

axillary freckling
cafe au lait spots
pheochromocytoma

Question 17

what gene is affected in achondroplasia ?

Answer 17

FGFR 3

Question 18

what gene is affected in Marfan syndrome ?

Answer 18

fibrillin 1

Question 19

what is important to screen for in marfan syndrome ?

Answer 19

aortic root dilatation

Question 20

what is the method of inheritance in CF ?

Answer 20

autosomal recessive

Question 21

what investigations ar eassociated with a diagnosis of CF ?

Answer 21

sweat chloride test
IT in heel prick
positive fecal elastase in pancreatic insufficiency

Question 22

what gene is affected in CF ?

Answer 22

CFTR gene

Question 23

what is the presentation of gaucher disease ?

Answer 23

hepatosplenomegaly

anemia

Question 24

what are the features of fragile X syndrome ?

Answer 24

hyperflexibility
large testes
large ears
long face

Question 25

what is the gene association in fragile X ?

Answer 25

cgg repeats

Question 26

what are premutation carriers in fragile x syndrome associated with ?

Answer 26

premature ovarian failure

Question 27

what are the features associated with mitochondrial diseases ?

Answer 27

only males can have it

only father to son transmission

Question 28

what are examples of mitochondrial diseases ?

Answer 28

DIDMOAD

MELAS