Genetics List

Question 1

Tuberous sclerosis

Answer 1

Autosomal Dominant

Question 2

Marfan syndrome

Answer 2

Autosomal Dominant

Question 3

Neurofibromatosis

Answer 3

Autosomal Dominant

Question 4

Huntington’s disease

Answer 4

Autosomal Dominant

Question 5

Retinoblastoma

Answer 5

Autosomal Dominant

Question 6

Waardenburg syndrome

Answer 6

Autosomal Dominant

Question 7

Myotonic dystrophy

Answer 7

Autosomal Dominant

Question 8

Familial hypercholestrolemia (LDL receptor defect Type IIa)

Answer 8

Autosomal Dominant

Question 9

Adult Polycystic kidney disease

Answer 9

Autosomal Dominant

Question 10

von Hippel Lindau

Answer 10

Autosomal Dominant

Question 11

Familial adenomatous polyposis and Peutz Jeghers Syndrome

Answer 11

Autosomal Dominant

Question 12

Hereditory spherocytosis

Answer 12

Autosomal Dominant

Question 13

Achondroplasia

Answer 13

Autosomal Dominant

Question 14

Ehlor’s Danlos (vascular type)

Answer 14

Autosomal Dominant

Question 15

Acute intermittent porphyria

Answer 15

Autosomal Dominant

Question 16

Hypertrophic Obstructive Cardiomyopathy (HOCM)

Answer 16

Autosomal Dominant

Question 17

Von Willebrand Disease

Answer 17

Autosomal Dominant

Question 18

Polydactyly

Answer 18

Autosomal Dominant

Question 19

Osteogenesis Imperfecta (Except Type VII)

Answer 19

Autosomal Dominant

Question 20

Hypokalemic Periodic Paralysis

Answer 20

Autosomal Dominant

Question 21

Hereditary hemorrhagic telengiactasia (Osler-weber-rendu syndrome)

Answer 21

Autosomal Dominant

Question 22

Osteopetrosis Type II (Adult type)

Answer 22

Autosomal Dominant

Question 23

Complete Androgen Insensitivity

Answer 23

X-linked recessive

Question 24

Congenital Aqueductal stenosis (hydrocephalus)

Answer 24

X-linked recessive

Question 25

Inherited Nephrogenic Diabetes Insipidus

Answer 25

X-linked recessive

Question 26

RETT’s syndrom

Answer 26

X-linked dominant

Question 27

charcot marie tooth disease

Answer 27

X-linked dominant

Question 28

fragile-X syndrome

Answer 28

X-linked dominant

Question 29

alport syndrome

Answer 29

X-linked dominant

Question 30

Hereditary rickets

Answer 30

X-linked dominant

Question 31

incontinenta pigmenti

Answer 31

X-linked dominant

Question 32

chrom 6

Answer 32

Hemochromatosis.

Question 33

chrom 5

Answer 33

Cri-Du-Chat Syndrome.

Question 34

chrom 7

Answer 34

Cystic Fibrosis.

Question 35

Chromosome 11p:

Answer 35

Sickle Cell Disease.

Question 36

Chromosome 12q:

Answer 36

Phynelketonuria.

Question 37

Chromosome 13:

Answer 37

Patau Syndrome; Wilson Disease.

Question 38

Chromosome 15:

Answer 38

Angelman Syndrome, Prader-willi Syndrome, Tay-Sachs Disease.

Question 39

Chromosome 16,4:

Answer 39

Polycystic Kidney Disease (PKD1, PKD2) respectively.

Question 40

Chromosome 17p:

Answer 40

Celiac Disease; Charcot-Marie-Tooth Disease..

Question 41

Chromosome 18:

Answer 41

Edward Syndrome.

Question 42

Chromosome 21:

Answer 42

Down Syndrome.

Question 43

Chromosome 22:

Answer 43

Digeorge Syndrome; Neurofibromatosis.

Question 44

(Chromosome 4 (HTT gene) CAG)

Answer 44

Huntingdon’s Disease

Question 45

(Chromosome 19 (DMPK gene) CTG)

Answer 45

Myotonic Dystrophy

Question 46

(Chromosome X FMR1 gene) CGG)

Answer 46

Fragile X syndrome

Question 47

(Chromosome 9 (Frataxin gene) GAA)

Answer 47

Friedrich’s Ataxia

Question 48

B Bruton’s agammaglobulinemia

Answer 48

X-linked recessive

Question 49

W Wiskott-Aldrich syndrome

Answer 49

X-linked recessive

Question 50

F Fabry’s syndrome

Answer 50

X-linked recessive

Question 51

G G6PD deficiency

Answer 51

X-linked recessive

Question 52

O Ocular albinism

Answer 52

X-linked recessive

Question 53

L Lesch Nyhan syndrome

Answer 53

X-linked recessive

Question 54

D Dystrophy (Duchenne’s, and Becker’s)

Answer 54

X-linked recessive

Question 55

S Hunter’s syndrome

Answer 55

X-linked recessive

Question 56

H Hemophilia A & B

Answer 56

X-linked recessive