Pathology

Question 1

Autosomal dominant disorder

Answer 1

He -huntingtons disease
Has-hereditary spherocytosis
A- adult onset pckd
Very-vwd/VHL
D-dystrophia mytonica
O-osteogenesis imperfecta
M-marfans syndrome
I-intermittent porphayria(uroporphyrinogen 1 synthase defi.)
N-NF1
A-achondroplasia
N-NF2
T-tuberous sclerosis
Father-famillial adonomatous polyposis
Familial hypercholestrolemia

Question 2

Autosomal recessive disorder

Answer 2

A-alpha 1 antitrypsin defi. ,ataxia telengiectasia,alkaptonuria(homogentisate oxidase)
B-beta thalassemia,sickle cell anemia
C-cystic fibrosis.CAH
D-deafness
E-emphysema
F-fredrichs ataxia
G-gauchers,glycogen storage disorder
G-galactosemia
H-hemochromatisis,homocystinuria
I -inborn errors of metabolism

Question 3

X linked recessive disorder

Answer 3

Lady-lesch nyhan syndrome
Hardings-heamophila A and B,hunters disease
College-colour blindness
Girls-g6pd defi.
Dont-duchene muscular dystrophy
Care-chronic granulomatous diseas
About-agammaglobulinemia
Foolish-fabrys disorder,fragile x syndrome
Words-wiscott aldrich syndrome

Question 4

X linked dominant disorder

Answer 4

R -rett’s syndrome
A -alport syndrome
V-vit.d resistant rickets
I-incontinentia pigmenti