MSRA - GENETICS

Question 1

X LINKED RCESSIVE

Answer 1

HEMOPHILIA
G6PD
COLOUR BLINDNESS

Question 2

X LINKED DOMIANNT

Answer 2

FRAGIL X SYNDROME !-NB
ALPORT

Question 3

FRAGILE X SYNDROME

Answer 3

low iQ

Question 4

edwards

Answer 4

trisomy 18
second most common after downs
80% femae

rcoker bottom feet
clentched hands
micrognthaia
microcephaly

Question 5

patau

Answer 5

3rd most common after edwars

many babies do not survive or born still born

many congenital heart defects

cleft paltetee
the brain fails to divide into 2 - HOLOPROSCOCEPHALY -cleft, hypotelreoim,causing midline problems

Question 6

turners

Answer 6

45XO
short
webbed neck
horse shoe kidneys
infertile
no periods
lymphadema - sausge fingers /toes caused bu underdevloped lymph vessles

Question 7

kleinfelters

Answer 7

47xxy
tall
womanly featres
infetile - small tetsicles

Question 8

downs syndrome

Answer 8

trisomy 21

epicanthic folds
single palamr crease
congenital heart defects
hypotonia at birth
protudridng tongue

Question 9

peutz jeghers synrme

Answer 9

pigmented mouth polyps in the intenstine
increased risk of devloping intesitnal cancer

23 is the mean age of diagnoiss and usually its from abdominal pain which reveals intussesuctpion, bowel obstruction

its dominant condition

Question 10

familial adeno

Answer 10

Familial Adenomatous Polyposis (FAP), also called Familial Polyposis Coli, is a rare inherited condition where hundreds to thousands of precancerous polyps (adenomas) form in the large bowel, virtually guaranteeing colorectal cancer by middle age unless the colon is surgically removed.

dominant

Question 11

hartnups disease

Answer 11

Hartnup disease(pellegra like) is a disorder of amino acid (tryptophan particualry ) transport in the intestine and

triggered by sunlight emotional or physical stress.

rash develops on areas of body that sun exposed

Question 12

PKU

Answer 12

rare, inherited metabolic disorder where the body can’t break down the amino acid phenylalanine, causing it to build up to toxic levels, leading to intellectual disability, seizures, and behavioral issues if untreated