name that inheritance pattern

Question 1

Prader-willi syndrome

Answer 1

Maternal imprinting (paternal gene is delted or mutated)

Question 2

AngelMan syndrom

Answer 2

Paternal imprinting (maternal gene is deleted or mutated)

Question 3

Mitchondrial MYOPATHIES

Answer 3

mitochondial inheritance - all offspring of affected females may show signs of disease

Question 4

Autosomal dominent polycystic kidney disease

Answer 4

Autosomal dominant, duhhhh

Question 5

FAP

Answer 5

Autosomal dominant

Question 6

Familial hypercholesterolemia

LDL receptor issue

Answer 6

Autosomal dominant

Question 7

Hereditary hemorrhagic telangiectasia

Answer 7

Autosomal dominant

Question 8

Hereditary spherocytosis

Answer 8

Autosomal dominant

Question 9

Huntingtons disease

Answer 9

Autosomal dominant

Question 10

Marfan syndrome

Answer 10

Autosomal dominant

Question 11

Multiple endocrine neoplasias MEN 1, 2A, 2B

Answer 11

Autosomal dominant

Question 12

Neurofibromatosis type 1 (von reclinghausen)

Answer 12

Autosomal dominant

Question 13

Neurifibromatosis type 2

Answer 13

Autosomal dominant

Question 14

Tuberous sclerosis

Answer 14

Autosomal dominant

Question 15

von Hippel-Lindau disease

Answer 15

Autosomal dominant

Question 16

Albinism

Answer 16

autosomal recessive

Question 17

ARPKD (infantile polycistic kidney disease)

Answer 17

autosomal recessive

Question 18

CF

Answer 18

autosomal recessive

Question 19

glycogen storage diseases

Answer 19

autosomal recessive

Question 20

Karagener syndrome

Answer 20

autosomal recessive

Question 21

mucopolysaccharidoses (except hunter syndrome)

Answer 21

autosomal recessive

Question 22

phenylketonuria

Answer 22

autosomal recessive

Question 23

sickle cell anemia

Answer 23

autosomal recessive

Question 24

sphigolipidoses (except fabry disease)

Answer 24

autosomal recessive

Question 25

Thalassemias

Answer 25

autosomal recessive

Question 26

wilsons disease

Answer 26

autosomal recessive

Question 27

bruton aggamaglobulinemia

Answer 27

x-linked recessive

BTK kindase immunodeficiency, B cells

Question 28

wiskott-aldrich syndrome

Answer 28

x-linked recessive

thrombocytopenic purpura, eczema, recurrent infections

Question 29

Fabry disease

Answer 29

x-linked recessive

Question 30

G6PD deficiency

Answer 30

x-linked recessive

Question 31

Ocular albinism

Answer 31

x-linked recessive

Question 32

Lesch-Nyhan syndrome

Answer 32

x-linked recessive

Question 33

Duchenne and Becker muscular dystrophy

Answer 33

x-linked recessive

Question 34

Hunter syndrome

Answer 34

x-linked recessive

Question 35

Hemophilia A and B

Answer 35

x-linked recessive

Question 36

Ornithine transcarbamylase deficiency

Answer 36

x-linked recessive

Question 37

Digeorge syndrome, velocardifacial syndrome

Answer 37

22q11 deletion

Question 38

Down syndrome

Answer 38

trisomy 21

• 95% meiotic nondysjunction
• 4% robertsonian translocation
• 1% mosaicism (no maternal association, post-fertilization mitotic error)

Question 39

Edwards syndrome

Answer 39

Trisomy 18

Question 40

Patau syndrome

Answer 40

trisomy 13

Question 41

cri-du-chat

Answer 41

-microdeletion of short arm of chromosome 5

46XX or XY 5p-

Question 42

Williams syndrome

Answer 42

-congenital microdeletion of long arm of chromosome 7

Question 43

Most metabolism enzyme defects

Answer 43

autosomal recessive

Question 44

hypertriglyceridemia

Answer 44

autosomal dominant

Question 45

hyper chylomicronemia (lipoprotein lipase deficiency)

Answer 45

autosomal recessive