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The Holy Grail (Miscellaneous) > Genetics > Flashcards

Flashcards in Genetics Deck (23)
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1
Q

Tuberous sclerosis

A

Autosomal dominent

Ash leaf macule
Periungual fibromas
Angiofibromas

2
Q

Neurofibromatosis 1

A

Autosomal dominant

Cafe-au-lait patches (>2.5cm)
Lisch nodules (2 or more)
3
Q

Neurofibromatosis 2

A

Autosomal dominant

Cafe-au-lait patches
Glioma/ bilateral vestibular schwannoma

4
Q

Gorlin’s Syndrome

A

Autosomal dominant

Familial cancer syndrome

5
Q

Basal cell carcinoma

A

PTCH1 gene

Hedgehog signalling pathway

6
Q

Osteogenesis imperfecta

A

Mild: Autosomal dominant
Rarer cases: Autosomal recessive

Type 1 collagen defect- brittle bone defect
blue sclera

7
Q

Achrondroplasia

A

Autosomal dominant

8
Q

Marfan’s syndrome

A

Autosomal dominant or sporadic

Fibrillin gene
Tall, long limbs, pectus excavatum, valve defects

9
Q

Ehler’s-Danlos

A

Autosomal dominant

Irregular collagen and elastic formation

10
Q

Duchenne’s/ Becker’s dystrophy

A

X linked recessive (occurs in males only)

Defect in dystophin gene
Raised CK, gower’s sign

11
Q

IPEX Syndrome

A

X-linked inheritance

FOXP3 gene
Immune dysregulation
Endocrionopathy
Enteropathy- severe diarrhoea

12
Q

Congenital adrenal hyperplasia

A

Autosomal recessive

Commonly 21-alpha hydroxylase deficiency

13
Q

MEN 1

A

Autosomal dominant
MEN 1 gene

Pituitary
Parathyroid
Pancreatic islet cells

14
Q

MEN 2

A

Autosomal dominant
RET gene

Medullary thyroid, Pheochromocytoma

15
Q

Von Hippel lindau

A

Autosomal dominant

VHL gene
Vascular tumours

16
Q

Adrenocortical hyperplasia

A

Autosomal recessive

Increased androgen production

17
Q

Donohue syndrome

A

Autosomal recessive

Severe insulin resistance
Mutations in the insulin receptor

18
Q

Rabson Mendenhall

A

Autosomal recessive

Hyperglycaemia
Hyperinsulinaemia

19
Q

Polycystic kidneys

A

Autosomal dominant- PKD1 c16, PKD2 c4

Autosomal recessive- PKDH1 c6

20
Q

Alports syndrome

A

X linked
COL4AS gene

Type IV collagen disorder
Haematuria and deafness

21
Q

Anderson Fabry’s

A

X linked, lysosomal storage

Deficiency of alpha-galactosidase A
Angiokeratomas around the umbillicus

22
Q

Medullary cystic kidney

A

Autosomal dominant

Abnormal tubules leasing to fibrosis

23
Q

Medullary sponge

A

Sporadic inheritance

Dilation of collecting ducts