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Genetics AM > Genetic of multi system disorders > Flashcards

Genetic of multi system disorders Flashcards

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Biology 101 flashcards
1
Q

What are the modes of inheritance?

A

Chromosomal
Single gene disorders
Multifactorial

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2
Q

What are the modes of chromosomal inheritance?

A

Numerical e.g. trisomy 21

Structural e.g. translocations, deletions

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3
Q

What are the methods of single gene inheritance?

A

Autosomal dominant e.g. TS, NF1
Autosomal recessive e.g. CF
X linked e.g. Duchenne’s

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4
Q

What are the aspects of multifactorial inheritance?

A

Polygenic

Enironmental

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5
Q

What is the method of inheritance of neurofibromatosis type 1?

A

Autosomal dominant

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6
Q

What is the gene in NF1?

A

17q tumour suppressor gene

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7
Q

What is the diagnostic criteria for NF1?

A

2+ characteristic symptoms

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8
Q

What are the diagnostic symptoms for NF1?

A 
6+ cafe au lait spots
2+ neurofibromas
Axillary freckling
Lisch nnodules
Optic glioma
Thinning of long bone cortex
FH
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9
Q

What are the further features of NF1?

A 
Macrocephaly
Short stature
Noonan looking face
Learning difficulties
Epilepsy
Scoliosis
Pseudoarthrosis of tibia
Raised BP
Neoplasia- CNS or endocrine
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10
Q

What causes raised BP in NF1?

A

Renal artery stenosis

Phaechromocytoma

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11
Q

What are the main features of NF2?

A

Acoustic neuroma- usually bilateral
CNS and spinal tumours
Cafe au lait spots

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12
Q

What is the gene defect in NF2?

A

Defect on chromosome 22

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13
Q

What is the classic triad of tuberous sclerosis?

A

Epilepsy
Learning difficulties- autistic features common
Skin lesions

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14
Q

What skin lesions are common in TS?

A 
Depigmented macules
Angiofibromas
Fibrous plaque on forehead
Shagreen patches
Ungual fibromas
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15
Q

What is the presentation of TS?

A

Classic triad- epilepsy, learning difficulties, skin lesions
Hamartomas in different organs- phakomas= retinal
Kidneys- cysts and angiomyolipoma
Rhabdomylosis of heart

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16
Q

What is the inheritance of TS?

A

Autosomal dominant

17
Q

What is the inheritance of myotonic dystrophy?

A

autosomal dominant

18
Q

What are the clinical features of myotonic dystrophy?

A 
Bilateral late onset cataracts
Muscle weakness, stiffness and myotonia
Low motivation
Bowel issues
DM
Heart block

Genetics AM (3 decks)

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