Genetic Disorders

Question 1

Autosomal dominant disorders

Answer 1

Marfan syndrome
Ehlers Danlos Sy
Neurofibromatosis
Polysistic kidney disease

Question 2

Autosomal recessive diseases

Answer 2

Cystic fibrosis
Haemochromatosis(bronze diabetes) 
Albinisim
Galactosemia
Phylketonuria
Lysosomal storage disease
Glycogen storage

Question 3

X linked dominant disorders

Answer 3

Vitamin d resistant ricketts

Melmelnick needles syndrome

Question 4

X linked recessive

Answer 4

Duchenne muscular dystrophy
Haemophilia A\B
Lesch Nyhan Syndrome (lns)
Chronic granulomatous disease (cgd)
Glucose 6 phosphate dehydrogenase deficiency (g6pdd)
Wiskott aldrich syndrome

Question 5

Autosome numeric abnormalities

Answer 5

Down syndrome (trisomy21)
Edward sy(trisomy18)
Patau syndrome ( trisomy13

Question 6

Sex chromosome numeric abnormalities

Answer 6

Klinefelter synd (47xxy,48xxxy)
Turner synd (45 x)

Question 7

Structural abnormalities

Answer 7

Cri du chat syndrome

Question 8

Disorders due to triplet repeat mutation

Answer 8

Fragile X syndrome

Question 9

Disorders due to mutations of mitochondrial genes

Answer 9

Leber hereditary optic neuropathy

Kearns Sayre Synd (kss)

Question 10

Disorders due to genomic imprinting

Answer 10

Prader willi syndrome

Angelman syndrome