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Paediatrics > Genetic Problems > Flashcards

Genetic Problems Flashcards

1
Q

What is Down’s syndrome?

A

Trisomy 21

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2
Q

What are the features of Down’s syndrome?

A 
Hypotonia
Brachycephaly
Flattened face
Prominent epicanthic folds
Single palmar crease
Brushfield spots
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3
Q

What is brachycephaly?

A

Flattened area at the back of the skull

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4
Q

What are the complications of Down’s syndrome?

A 
Learning difficulties
Deafness
Recurrent otitis media
Visual problems
Cardiac defects
Leukameia 
Dementia
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5
Q

What cardiac defects are associated with Down’s syndrome?

A

ASD
VSD
PDA
Tetralogy of Fallot

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6
Q

How is Down’s syndrome screened for?

A

Combined test
Triple test
Amniocentesis
Chorionic villus sampling

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7
Q

When is the combined test for Down’s syndrome done?

A

11-14 weeks gestation

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8
Q

What is the combined test for Down’s syndrome?

A

Ultrasound - measures nuchal translucency

Maternal blood tests

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9
Q

When is the triple test for Down’s syndrome done?

A

14-20 weeks gestation

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10
Q

What is the triple test for Down’s syndrome?

A

B-HCG
AFP
Serum oestriol

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11
Q

What is Turner’s syndrome?

A

Single X chromosome

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12
Q

What are the features of Turner’s syndrome?

A 
Short stature
Webbed neck
Widely spaced nipples
Cubitus valgus
Infertility
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13
Q

What is cubitus valgus?

A

Forearm angled away from body at a greater angle than expected when the arm is straight

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14
Q

What are complications of Turner’s syndrome?

A 
Recurrent otitis media
Coarctation of the aorta 
Recurrent UTI
Hypothyroidism 
Hypertension
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15
Q

What is Patau syndrome?

A

Trisomy 13

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16
Q

What are features of Patau syndrome?

A 
Microcephaly
Small eyes
Cleft lip/palate
Polydactyly
Scalp lesion
17
Q

What is Edward’s syndrome?

A

Trisomy 18

18
Q

What are features of Edward’s syndrome?

A

Micrognathia
Low set ears
Rocker bottom feet
Overlapping fingers

19
Q

What is micrognathia?

A

Small jaw

20
Q

What is noonan syndrome?

A

Autosomal dominant genetic condition

21
Q

What are features of Noonan syndrome?

A 
Short stature
Webbed neck
Hypertelorism 
Prominent nasolabial folds
Pectus excavatum
22
Q

What is hypertelorism?

A

Wide space between eyes

23
Q

What are complications of Noonan syndrome?

A

Congenital heart disease
Cryptorchidism
Learning disability
Increased leukaemia risk

24
Q

What congential heart disease is associated with Noonan syndrome?

A

Pulmonary stenosis

25
Q

What is Klinefelter syndrome?

A

XXY

26
Q

What are features of Klinefelter syndrome?

A 
Tall
Wide hips
Gynaecomastia
Small testicles
Infertility
27
Q

What is Prader-Willi syndrome?

A

Partial deletion of chromosome 15

28
Q

What are features of Prader-Willi syndrome?

A

Constant hunger -> obesity
Hypotonia
Hypogonadism

29
Q

How is Prader-Willi syndrome managed?

A

Dietician

Growth hormone

30
Q

What is William syndrome?

A

Partial chromosome 7 deletion

31
Q

What are feaures of William syndrome?

A

Starburst eyes
Wide mouth
Very sociable

32
Q

What are complications of William syndrome?

A

Supravalvular aortic stenosis
Hypercalcaemia
Hypertension

33
Q

What is fragile X syndrome?

A

Mutation of FMR1 gene on X chromosome

34
Q

What is the inheritance pattern of fragile X syndrome?

A

X-linked

35
Q

What are features of fragile X syndrome?

A 
Learning difficulties
Macrocephaly 
Long face
Large ears
Macro-orchidism

Paediatrics (40 decks)

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