Genetic Diseases

Question 1

Hypodontia

Answer 1

Hypodontia is Single Gene Mutation

Question 2

Ameogenesis Imperfecta

Answer 2

Amelogenesis Imperfecta is Single Gene Mutation

Question 3

Hereditary Gingival Fibromiatosis

Answer 3

Hereditary Gingival Fibromiatosis is a single gene mutation

Question 4

Epidemolysis Bullosa

Answer 4

Epidemolysis Bullosa is a single gene mutation

Question 5

Chronic Periodontitis

Answer 5

Chronic Perio is a single gene mutation

Question 6

Cleft Lip / Palate

Answer 6

Cleft Lip / palate is a single gene mutation

Question 7

Oral Squamous Cell Carcinoma

Answer 7

Oral squamous cell carcinoma is a single gene mutation (mutation of p53)

Question 8

Sickle Cell Anemia

Answer 8

Sickle Cell anemia is (1) a missense single gene mutation (glu–>val) AND (2) autosomal recessive

Question 9

Downs Syndrome

Answer 9

Downs is a trisomy 21–chromosomal abnormality

Question 10

Patau Syndrome

Answer 10

Patau is a trisomy 13–chromosomal abnormality

Question 11

Edwards Syndrome

Answer 11

Edwards is a trisomy 18–chromosomal abnormality

Question 12

Hemophilia

Answer 12

Hemophilia is a sex-linked disorder, and x-linked recessive

Question 13

Turners

Answer 13

Turners (XO) is a sex-linked disorder

Question 14

Klinefelters

Answer 14

Klinefelters (XXY) is a sex-linked disorder

Question 15

Jacobs

Answer 15

Jacobs (XYY) is a sex-linked disorder

Question 16

Triple X

Answer 16

Triple X (XXX) is a sex-linked disorder

Question 17

Multiple XY

Answer 17

Multiple XY is a sex-linked disorder

Question 18

Pattern Baldness

Answer 18

Pattern Baldness is a sex-influenced disorder

Question 19

Rett Syndrome

Answer 19

Rett syndrome is a sex-limited disorder (to females only)

Question 20

Duchenne Muscular Dystrophy

Answer 20

Duchenne Muscular Dystrophy is a sex-limited disorder (males only) and X-linked recessive

Question 21

Huntington’s Disease

Answer 21

Huntington’s is a trinucleotide repeat (CAG), autosomal dominant disease

Question 22

Myotonic Muscular Dystrophy

Answer 22

Myotonic muscular dystrophy is a trinucleotide repeat (CUG)

Question 23

Fragile X syndrome

Answer 23

Fragile X is a trinucleotide repeat (CGG), x-linked dominant

Question 24

Cri du Chat syndrome

Answer 24

Cri du Chat is a result of deletion; chromosomal structure variation disease

Question 25

Charcot-Marie-Tooth disease

Answer 25

duplication- chromosomal structure variation disease

Question 26

Familial Down Syndrome

Answer 26

Familial Down Syndrome results from a Robertsonian Translocation (chromosomal structure variation disease)

Question 27

Cystic Fibrosis

Answer 27

CF is an autosomal recessive disease

Question 28

PKU

Answer 28

PKU is an autosomal recessive disease

Question 29

Tay-Sachs

Answer 29

Tay-Sachs is an autosomal recessive disease

Question 30

Hypophosphatemic Rickets

Answer 30

Hypophosphatemic Rickets is an X-linked dominant disease

Question 31

G6P Deficiency

Answer 31

G6PD is an x-linked recessive disease

Question 32

Prader Willi Syndrome

Answer 32

Prader Willi Syndrome is a result of Genomic Imprinting

Question 33

Angelman's Syndrome

Answer 33

Angelman's syndrome is a result of Genomic Imprinting

Question 34

Familial Hypercholesterimia

Answer 34

Familial Hypercholesteremia is an autosomal dominant disease

Question 35

Neurofibromatosis

Answer 35

Neurofibromatosis is an autosomal dominant disease

Question 36

Marfan syndrome

Answer 36

Marfan Syndrome is an autosomal Dominant disease

Question 37

Von Hippel Lindau disease

Answer 37

VHL is an autosomal Dominant disease