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Paeds AM > Chromosomal abnormalities > Flashcards

Chromosomal abnormalities Flashcards

1
Q

What are some trisomies?

A

Patau
Edwards
Down’s

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2
Q

What is Patau?

A

Trisomy 13

Varying severity

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3
Q

What is the presentation of PAtau?

A

Patau= Polydactyly and Palate
Microcephaly
Cleft lip/palate
Polydactyly

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4
Q

What is Edwards?

A

Trisomy 18

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5
Q

What is the presentation of Edwards?

A 
Micrognathia 
Low set ears
Rocker bottom feet
Overlapping of fingers
Don't normally make it to term/live
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6
Q

What is Down’s?

A

Trisomy 21

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7
Q

What is the presentation of Down’s?

A 
Hypotonia
Brachycephaly
Prominent epicanthic folds
Flattened face and nose 
Single palmar crease
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8
Q

What is the antenatal screening for Down’s?

A

US for nuchal translucency >6mm
BhCG- higher= greater risk
PAPPA- lower= greater risk

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9
Q

What is Down’s associated with?

A 
Learning disability
Deafness 
Visual problems
Cardiac- AVSD, VSD, PDA, tetralogy of Fallot
Hypothyroid
Coeliac
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10
Q

What is Marfan?

A

Autosomal dominant

Problem with fibrillin

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11
Q

What is the presentation of Marfan?

A 
Tall stature, long limbs and fingers
Hypermobility
Pectus carinatum/excavatum 
Mitral/aortic regurg
High arches palate
Scoliosis
Flat feet
Recurrent pneumothorax
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12
Q

What is the management of Marfan?

A

Manage CV risk- BB and ACEi

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13
Q

What is Fragile X?

A

X linked

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14
Q

What is the presentation of Fragile X?

A 
Delay in speech and language 
Intellectual disability 
Long, narrow face
Large ears
Hypermobile joints
Large testicles after puberty
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15
Q

What is the inheritance of Noonan?

A

Autosomal dominant

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16
Q

What is the presentation of Noonan?

A 
Webbed neck
Short stature
Broad forehead
Pectus excavatum 
Pulmonary stenosis
17
Q

What is Prader-Willi?

A

Deletion of proximal arm of chromosome 15

18
Q

What the presentation of Prader-Willi?

A

Constant insatiable hunger

Hypotonia

19
Q

What is the management of Prader-Willi?

A

Growth hormone

Dietetics input

20
Q

What is the cause of William’s syndrome?

A

Deletion on chromosome 7

21
Q

What is the presentation of William’s syndrome?

A 
Smiley, Sociable, Short, Starburt eyes and Stenosis
Wide mouth with big smile 
Sociable personality
Starburt eyes
Short stature 
Learning difficulties 
Supravalvular aortic stenosis
Associated with hypercalcaemia
22
Q

What is Klinefelter?

A

Male with additional X chromosome so XXY

23
Q

What is the presentation of Klinefelter?

A 
Normal until puberty 
Taller height 
Wider hips, gynecomastia 
Weaker muscles 
Small testicles 
Subtle learning difficulties
24
Q

What is the management of Klinefelter?

A

Testosterone injections

25
Q

What is Turner?

A

Female with single X so XO

26
Q

What is the presentation of Turner?

A

Short stature
Webbed neck
Widely spaced nipples

27
Q

What is the management of Turner?

A

Oestrogen and progesterone

Growth hormone

Paeds AM (28 decks)

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