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Physiology MRCP > Genetic syndromes > Flashcards

Genetic syndromes Flashcards

1
Q

What is DiGeorge syndrome?

A

Primary immunodeficiency disorder causing by T cell deficiency and dysfunction

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2
Q

What are the genetics of DiGeorge syndrome?

A

Autosomal dominant
22q11.2 deletion (deletion on q arm chromosome 22)

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3
Q

What are the features of DiGeorge syndrome?

A

CATCH22
Cardiac abnormalities
Abnormal facies
Thymic hypoplasma
Cleft palate
Hypocalcaemia/hypoparathyroidism
Chromosome 22 deletion

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4
Q

What is the main risk factor for Down’s syndrome?

A

Increasing maternal age

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5
Q

What is a way of remembering the risk for Down’s with maternal age?

A

1:1000 at 30 then 3x more common every extra 5 years

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6
Q

What is the most common cause of Down’s syndrome?

A

Nondisjunction

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7
Q

What are the facial clinical features of down’s syndrome?

A

Epicanthic folds
Small low set ears
Round/flat face
Upslanting palpebral tissues
Brushfield spots in iris
Protruding tongue

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8
Q

What are the clinical features of Down’s syndrome?

A

Flat occiput
Single palmar crease
“Sandal gap” between biog and 1st toe
Hypotonia
Congenital heart defects
Duodenal atresia
Hirschsprung’s disease

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9
Q

What is the most common cardiac complication in Down’s syndrome?

A

Endocardial cushion defect - 40%

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10
Q

What are the common cardiac complications in Down’s syndrome?

A

Endocardial cushion defect - 40%
VSD - 30%
Secundum ASD
Tetralogy of Fallot
PDA

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11
Q

What are later complications of Down’s syndrome?

A

Subfertility
Learning difficulties
Short stature
Repeated respiratory infections
ALL
Hypothyroid
Alzeheimer’s
Atlantoaxial instability

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12
Q

What is fragile X disorder?

A

Trinucleotide repeat disorder

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13
Q

What are the common features of fragile X syndrome?

A

Leaning difficulties
Macrocephaly
Long face
Large ears
Macroorchidism

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14
Q

What is Turner’s syndrome?

A

45X or 45 XO
Presence of only 1 sex chromosome or deletion of short arm of one of X chromosomes

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15
Q

Who is Tuner’s seen in?

A

Females only

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16
Q

What are the visible clinical features of Turner’s syndrome?

A

Short stature
Shield chest, widely spaced nipples
Webbed neck
High arched palate
Short 4th metacarpal
Multiple pigmented naevi
Lymphoedema

17
Q

What are the clinical features of Turner’s syndrome?

A

Bicuspid aortic valve, coarctation of aorta
Primary amenorrhoea
Elvated gonadotrophin
Hypothyroid
Horseshoe kidney

18
Q

What are the genetics Noonan syndrome?

A

Autosomal dominent
Defect on chromosome 12

19
Q

What are the common clinical features of Noonan syndrome?

A

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

20
Q

What are the internal features of Noonan?

A

Pulmonary valve stenosis
Factor XI deficiency

21
Q

What are the genetics of Prader-Willi syndrome?

A

Absence f Trader-Willi gene of long arm of chromosome 15
Either due to - micro deletion of parental gene
Maternal uniparental disomy of chromosome 15

22
Q

What are the common features of Prader-Willi syndrome?

A

Hypotonia
Hypogonadism
Obesity

23
Q

What are the features of Prader-Willi?

A

Dysmorphic features
Short stature
Hypogonalism and sub fertility
Learning difficulties
Childhood obesity
Behavioural problems

24
Q

What is Patau syndrome?

A

Trisomy 13

25
Q

What are the features of Patau syndrome?

A

Microcephalic
Small eyes
Cleft lip/palate
Polydactyly
Scalp lesions

26
Q

What is Edward’s syndrome?

A

Trisomy 18

27
Q

What are the features of Edward’s syndrome?

A

Micrognathia
Low set ears
Rocker bottom feet
Overlapping of fingers

28
Q

What are the features of Pierre-Robin syndrome?

A

Micrognathia
Posterior displacement of tongue
Cleft palate

29
Q

What are the features of William’s syndrome?

A

Short stature
Learning difficulties
Extroverted personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis

Physiology MRCP (19 decks)

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