Inheritance pattern

Question 1

Myotonic dystrophy

Answer 1

AD
DM1: DMPK1 gene, CTG repeat
DM2

Question 2

Dent’s Disease

Answer 2

X-linked

Question 3

Bartters/Gitelman’s

Answer 3

AR

Question 4

Sturge Weber

Answer 4

Somatic mosaic mutation

Question 5

NF1

Answer 5

Autosomal dominant, 50% sporadic

Question 6

NF2

Answer 6

Autosomal dominant, 50% sporadic

Question 7

Tuberous Sclerosis 1/2

Answer 7

Autosomal dominant, 75% sporadic

Question 8

Williams

Answer 8

Autosomal dominant

Question 9

Alagille

Answer 9

Autosomal dominant

Question 10

Marfan’s

Answer 10

Autosomal dominant

Question 11

Ehlers Danlos

Answer 11

Autosomal dominant

Question 12

Osteogenesis imperfecta

Answer 12

Autosomal dominant

Question 13

Stickler Syndrome

Answer 13

Autosomal dominant

Question 14

Brachio-oto-renal syndrome

Answer 14

Autosomal dominant

Question 15

Diamond Blackfan Anaemia

Answer 15

Autosomal dominant

Question 16

Von Hippel Lindau Syndrome

Answer 16

Autosomal dominant

Question 17

Cornelia De Lange Syndrome

Answer 17

Autosomal dominant

Question 18

Waardenburg Syndrome

Answer 18

Autosomal dominant

Question 19

Costello Syndrome

Answer 19

Autosomal dominant

Question 20

Noonan Syndrome

Answer 20

Autosomal dominant

Question 21

Cardiofasciocutaneous syndrome

Answer 21

Autosomal dominant

Question 22

Treacher-Collins Syndrome

Answer 22

Autosomal dominant

Question 23

A1AT Deficiency

Answer 23

Autosomal dominant

Question 24

Achondroplasia

Answer 24

Autosomal dominant

Question 25

Apert

Answer 25

Autosomal dominant

Question 26

Crouzon

Answer 26

Autosomal dominant

Question 27

Pfeiffer

Answer 27

Autosomal dominant

Question 28

ADPKD

Answer 28

Autosomal dominant

Question 29

Familial Adenomatous Polyposis

Answer 29

Autosomal dominant

Question 30

Li Fraumeni

Answer 30

Autosomal dominant

Question 31

MEN1, MEN 2A & B

Answer 31

Autosomal dominant

Question 32

Charcot-Marie-Tooth

Answer 32

Autosomal dominant

Question 33

CHARGE

Answer 33

Autosomal dominant

Question 34

Hypomelanosis of Ito

Answer 34

Autosomal dominant

Question 35

Osler-Weber-Rendu (HHT)

Answer 35

Autosomal dominant

Question 36

Gilbert

Answer 36

Autosomal dominant

Question 37

Peutz-Jeghers

Answer 37

Autosomal dominant

Question 38

Myotonic dystrophy

Answer 38

Autosomal dominant
MD1 = DMPK
- GTG triplet repeat
- Anticipation- maternal

Question 39

Huntingtons

Answer 39

Autosomal dominant
- CAG triplet repeat
- Anticipation-paternal

Question 40

CF

Answer 40

Autosomal recessive

Question 41

Wilson disease

Answer 41

Autosomal recessive

Question 42

Fanconi Anaemia

Answer 42

Autosomal recessive

Question 43

Homocysteinuria

Answer 43

Autosomal recessive

Question 44

ARPKD

Answer 44

Autosomal recessive

Question 45

Bartter/Gitelman

Answer 45

Autosomal recessive

Question 46

Thalassemia

Answer 46

Autosomal recessive

Question 47

Sickle cell anaemia

Answer 47

Autosomal recessive

Question 48

Glanzman Thrombasthenia

Answer 48

Autosomal recessive

Question 49

Smith-Lemli-Opitz

Answer 49

Autosomal recessive

Question 50

Cartillage-Hair-Hypoplasia

Answer 50

Autosomal recessive

Question 51

Carpenter

Answer 51

Autosomal recessive

Question 52

Ataxia-Telangectasia

Answer 52

Autosomal recessive

Question 53

Metachromatic Leukodystrophy

Answer 53

Autosomal recessive

Question 54

SMA

Answer 54

Autosomal recessive

Question 55

Tay-Sachs

Answer 55

Autosomal recessive

Question 56

TAR (thrombocytopenia absent radii)

Answer 56

Autosomal recessive

Question 57

Freidrich’s ataxia

Answer 57

Autosomal recessive

Question 58

Crigler Najjar

Answer 58

Autosomal recessive

Question 59

Kartageners/PKD

Answer 59

Autosomal recessive

Question 60

Gluc-galactose malabsorption

Answer 60

Autosomal recessive

Question 61

Congenital chloride diarrhoea

Answer 61

Autosomal recessive

Question 62

PKU

Answer 62

Autosomal recessive

Question 63

Congenital deafness

Answer 63

Autosomal recessive

Question 64

DMD

Answer 64

X-linked recessive

Question 65

Myotonia congenita (Thomsen disease)

Answer 65

Autosomal dominant

Question 66

Facioscapulohumeral dystrophy

Answer 66

Autosomal dominant

Question 67

Albrights hereditary osteodystrophy

Answer 67

Imprinting
- maternal = pseudohypoPTH
- paternal= no PTH

Question 68

Fanconi Anemia

Answer 68

AR

Question 69

Haemophilia A

Answer 69

X-linked

Question 70

Haemophilia B

Answer 70

X-linked

Question 71

Haemophilia C

Answer 71

AR

Question 72

Hermanksy-Pudlak/Chediak-Higashi

Answer 72

AR

Question 73

Glanzmann/Bernard-Soulier

Answer 73

AR

Question 74

MYH9-related thrombocytopenia

Answer 74

AD

Question 75

Leber Hereditary optic neuropathy

Answer 75

Mitochondrial

Question 76

Pearson syndrome

Answer 76

Mitochondrial disorder
- Anaemia- lack erythroid/myeloid progenitors
- FTT, exocrine pancreas failure, hypotonia & renal tubulopathy

Can progress to Kearn Sayre- opthalmoplegia, ataxia, AV conduction block, myopathy

Question 77

Diamond-Blackfan anaemia

Answer 77

Autosomal dominant
(ribosomopathy)- elevated ADA

Question 78

Fanconi anemia

Answer 78

AR/X-linked
Chromosome fragility
Positive chromosome breakage study

Question 79

Alagille

Answer 79

AD

Question 80

ARC syndrome

Answer 80

AR
Arthrogryoposis, renal tubular dysfunction, cholestasis syndrome

Question 81

Dubin-Johnson

Answer 81

AR