Other genetic diseases

Question 1

Albinism

Answer 1

Autosomal recessive

Question 2

Cystic fibrosis

Answer 2

Autosomal recessive

Question 3

Glycogen storage diseases

Answer 3

Autosomal recessive

Question 4

Hemochromatosis

Answer 4

Autosomal recessive

Question 5

Kartagener syndrome

Answer 5

Autosomal recessive

Question 6

Mucopolysaccharidoses

Answer 6

Autosomal recessive

Except hunters

Question 7

Phenylketonuria

Answer 7

Autosomal recessive

Question 8

Sickle cell anemia

Answer 8

Autosomal recessive

Question 9

Sphingolipidoses

Answer 9

Autosomal recessive

Except Fabry

Question 10

Thalassemias

Answer 10

Autosomal recessive

Question 11

Wilson Disease

Answer 11

Autosomal recessive

Question 12

Bruton agammaglobulinemia

Answer 12

X-linked recessive

Question 13

Wiskott-Aldrich syndrome

Answer 13

X-linked recessive

Thrombocytopenic purpura, eczema, recurrent infections

Question 14

Fabry Disease

Answer 14

X-linked recessive

Question 15

G6PD deficiency

Answer 15

X-linked recessive

Question 16

Ocular albinism

Answer 16

X-linked recessive

Question 17

Lesch-Nyhan

Answer 17

X-linked recessive

Question 18

Duchenne (and Becker) muscular dystrophy

Answer 18

X-linked recessive

Question 19

Hunter Syndrome

Answer 19

X-linked recessive

Question 20

Hemophilia A and B

Answer 20

X-linked recessive

Question 21

Ornithine transcarbamylase deficiency

Answer 21

X-linked recessive

Question 22

Huntington Disease

Answer 22

Trinucleotide repeat expansion disease

CAG

Question 23

Fragile X

Answer 23

Trinucleotide repeat expansion disease

CGG

Question 24

Friedreich ataxia

Answer 24

Trinucleotide repeat expansion disease

GAA

Question 25

Myotonic dystrophy

Answer 25

Trinucleotide repeat expansion disease

CTG

Question 26

Cri-du-chat syndrome

Answer 26

Congenital microdeletion of short arm of chromosome 5

Microcephaly, moderate to severe intellectual disability, epicanthal folds, cardiac abnormalities (VSD)

Question 27

Williams syndrome

Answer 27

Congenital microdeletion of long arm of chromosome 7 (deleted region includes elastin gene)

“Elfin” facies, intellectual disability, hypercalcemia (increased sensitivity to vitamin D), well-developed verbal skills, extreme friendliness with strangers, CV problems

Question 28

22q11 deletion syndromes

Answer 28

Cleft palate, abnormal facies, thymic apalsia (T cell deficiency), cardiac defects, hypocalcemia secondary to parathyroid aplasia

DiGeorge: thymic, parathyroid, cardiac defects

Velocardiofacial syndrome: palate, facial, and cardiac defects