Modes of Inheritance

Question 1

Prader-Willi synd

Answer 1

Paternal allele not expressed

Question 2

Angelman’s synd

Answer 2

Maternal allele not expressed

Question 3

hypophosphatemic rickets

Answer 3

X-linked dominant

Question 4

MERRF

Answer 4

mitochondrial inheritance

myoclonic seizures + myopathy ass w/ exercise

Question 5

Leber optic neuritis

Answer 5

mitochondrial inheritance

bilateral vision loss

Question 6

MELAS

Answer 6

mitochondrial inheritance

mitochondrial encephalopathy w/ lactic acidosis and stroke-like episodes

Question 7

achondroplasia

Answer 7

AD

mut in FGFR-3

Question 8

ADPKD

Answer 8

AD

mut in PKD1 (chrom 16)

Question 9

familial adenomatous polyposis

Answer 9

AD

chrom 5 (mut APC gene)

Question 10

familial hypercholesterolemia (hyperlipidemia type IIA)

Answer 10

AD

Question 11

hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu synd)

Answer 11

AD

Question 12

hereditary spherocytosis

Answer 12

AD

defect in spectrin or ankyrin

Question 13

Huntington’s dz

Answer 13

AD

chrom 4 (CAG repeat)

Question 14

Marfan’s synd

Answer 14

AD

fibrillin-1 mut

Question 15

multiple endocrine neoplasias (MEN)

Answer 15

AD

MEN 2A/2B - ass w/ Ret gene

Question 16

NF-1 (von Recklinghausen’s dz)

Answer 16

AD

long arm of chrom 17

Question 17

NF-2

Answer 17

AD

chrom 22

Question 18

tuberous sclerosis

Answer 18

AD

mutated hamartin (or tuberin) gene

Question 19

VHL dz

Answer 19

AD

del of VHL gene on chrom 3p (const activ of HIF + angiogenic factors)

Question 20

cystic fibrosis

Answer 20

AR

CFTR gene on chrom 7 (del of Phe 508)

Question 21

albinism

Answer 21

AR

Question 22

ARPKD

Answer 22

AR

Question 23

glycogen storage diseases

Answer 23

AR

Question 24

hemochromatosis

Answer 24

AR

Question 25

mucopolysaccharidoses (except Hunter's)

Answer 25

AR

Question 26

PKU

Answer 26

AR

Question 27

sickle cell anemia

Answer 27

AR

Question 28

sphingolipidoses (except Fabry's)

Answer 28

AR

Question 29

thalassemias

Answer 29

AR

Question 30

Bruton's agammaglobulinemia

Answer 30

X-linked recessive

Question 31

Wiskott-Aldrich synd

Answer 31

X-linked recessive

Question 32

Fabry's dz

Answer 32

X-linked recessive

Question 33

G6PD deficiency

Answer 33

X-linked recessive

Question 34

ocular albinism

Answer 34

X-linked recessive

Question 35

Lesch-Nyhan synd

Answer 35

X-linked recessive

Question 36

Duchenne's (and Becker's) muscular dystrophy

Answer 36

X-linked recessive

Question 37

Hunter's synd

Answer 37

X-linked recessive

Question 38

Hemophilia A + B

Answer 38

X-linked recessive

Question 39

Ornithine transcarbamoylase deficiency

Answer 39

X-linked recessive

Question 40

cri-du-chat

Answer 40

congenital microdeletion of short arm of chrom 5

Question 41

Fragile X synd

Answer 41

X-linked dominant methylation/expression of FMR1 gene

Question 42

Alport synd

Answer 42

X-linked recessive

Question 43

Charcot-Marie-Tooth dz

Answer 43

X-linked recessive

Question 44

adrenoleukodystrophy

Answer 44

X-linked recessive

Question 45

Androgen insensitivity synd

Answer 45

X-linked recessive

Question 46

Williams synd

Answer 46

congenital microdel of long arm of chrom 7 (del region includes elastin gene)

Question 47

Gardner's synd

Answer 47

AD | mut in APC gene

Question 48

HNPCC/Lynch synd

Answer 48

AD mutation of DNA mismatch repair genes proximal colon ALWAYS involved

Question 49

Rett's disorder

Answer 49

X-linked dom | mut of MECP-2 gene on X-chrom