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Sarah Paeds > Genetics > Flashcards

Genetics Flashcards

1
Q

Clinical features T21 (at birth)

A 
Facies 
Hypotonic 
Flat occiput 
Single palmar crease 
Incurved 5th finger 
Sandal gap
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2
Q

Ix T21

A

FISH

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3
Q

Congenital heart disease prevalence in T21

A

30%

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4
Q

50 year survivial T21

A

50%

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5
Q

Commonest cause of T21

A

Meiotic nondisjunction

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6
Q

Incidence T21

A

1/650

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7
Q

Incidence T18

A

1/8000

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8
Q

Incidence T13

A

1/14000

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9
Q

Immediate medical complications T21

A

Congenital heart disease - AVSD

Duodenal atresia

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10
Q

Incidence Turner’s

A

1/2500 live births (95% result in miscarriage)

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11
Q

Antenatal USS findings Turner’s

A

Fetal oedema of neck, hands, feet

Cystic hygroma

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12
Q

Neonatal features Turner’s

A 
Lymphoedema hands and feet 
Spoon nails 
Short stature 
Neck webbing 
Widely spaced nipples
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13
Q

Mx Turner’s

A 
GH therapy 
Oestrogen replacement (secondary sex characteristics - infertility persists)
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14
Q

Di George genetic abnormality

A

Deletion band q11 on chr22

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15
Q

Commonest mode of mendelian inheritance

A

AD

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16
Q

Examples AD inheritance

A 
Achondroplasia 
Marfan 
Huntington
Marfan 
Myotonic dystrophy 
Noonan
Osteogenesis imperfecta 
Tuberous sclerosis
17
Q

Examples AR inheritance

A 
Congenital adrenal hyperplasia 
Cystic fibrosis 
Galactosaemia 
PKU
SCD 
Thalassaemia
18
Q

What do AD disorders often affect?

A

Structural proteins

19
Q

What do AR disorders often affect?

A

Metabolic pathways

20
Q

Examples XR inheritance

A

Muscular dystrophies
Haemophilias
Fragile X
G6PD deficiency

21
Q

Trinucleotide repeat expansion mutations examples

A

Fragile X

Huntingtons

22
Q

Deletion affecting bands 11-13 on Chr 15 (MATERNAL/PATERNAL)

A

Maternal deletion - Angelman

Paternal deletion - Prader-Willi

23
Q

Prader-Willi features

A 
Hpotonia 
Hyperphagia 
Developmental delay 
Obesity 
Hypogonadism

Sarah Paeds (20 decks)

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