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Year 4: Paediatrics > Genetic Conditions > Flashcards

Genetic Conditions Flashcards

1
Q

Turners syndrome

A

45 X

- girl with only one X chromosome

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2
Q

physical features of turners syndrome

A

short stature
webbed neck
widely spaced nipples

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3
Q

renal abnormality in turners

A

horseshoe kidney

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4
Q

cardiac abnormality in turners

A

bicuspid aortic valve – aortic stenosis

coarctation of aorta

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5
Q

what is achondroplasia

A

dwarfism

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6
Q

what gene is defective in achondroplasia

A

FGFR3

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7
Q

what is Downs Syndrome

A

Trisomy 21

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8
Q

dysmorphic features in Downs Syndrome

A 
prominent epicanthic folds
single palmar crease
short stature 
hypotonia 
brachycephaly (small head with flat back)
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9
Q

complications of Downs syndrome

A 
learning disability 
recurrent otitis media / deafness 
hypothyroidism 
cardiac abnormalities - ASD, VSD, PDA, tetralogy of fallot
atlantoaxial instability
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10
Q

screening test for down Syndrome

A

offered to all women - identifies women at higher risk who could go on to have more invasive testing to give a definitive diagnosis
screening takes place between 11 - 14 weeks gestation:
- USS for nuchal translucency ( > 6mm abnormal and could suggest downs)
- Material Beta HcG (higher levels = higher risk)
- A-PAPPA (Lower levels = higher risk)

women with risk greater than 1 in 150 are offered invasive testing

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11
Q

diagnostic test for Down syndrome

A

chorionic villous sampling (done before 15 weeks)

amniocentesis (done after 15 weeks)

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12
Q

average life expectancy for child with Downs syndrome

A

60 years

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13
Q

Klinefelter syndrome

A

47 XXY

- male with an extra X chromosome

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14
Q

physical features of Klinefelter syndrome

A

usually normal until puberty. Then can develop

  • gynaecomastia
  • wide hips
  • tall
  • lack of secondary sexual characteristics
  • small testicles

gonadotrophin levels are elevated but testosterone is low

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15
Q

inheritance of cystic fibrosis

A

autosomal recessive

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16
Q

gene defect in cystic fibrosis

A

defect in CFTR gene due to mutation in delta F508 on chromosome 7

17
Q

features of cystic fibrosis

A 
meconium ileus in neonatal period
recurrent chest infections
malabsorption - steatorrhoea / failure to thrive
Type 1 diabetes 
short stature
delayed puberty / male infertility
18
Q

how is Cystic fibrosis diagnosed

A

chloride sweat test

- sweat chloride will be abnormally high

19
Q

what is Patau syndrome

A

trisomy 13

  • small eyes
  • clef palate
  • polydactyly (extra fingers / toes)
  • rocker bottom feet
20
Q

what is Edwards syndrome

A

trisomy 18

  • rocker bottom feet
  • low set ears
  • clenched hands

majority die shortly after birth

21
Q

what is Prader Willi syndrome

A

deletion of proximal arm chromosome 15 from father (imprinting)

  • insatiable hunger – leads to obesity
  • hypogonadism
  • hypotonia
  • learning difficulties
22
Q

what is Angelman Syndrome

A

deletion of proximal arm of chromosome 15 from mother (imprinting)

  • fascination with water
  • happy demeanor
  • widely spaced teeth
  • delayed development + learning difficulties
23
Q

what is Kartagners syndrome

A

primary ciliary dyskinesia

  • dextrocardia
  • bronchiectasis
24
Q

inheritance of Duchenne Muscular dystrophy

A

X linked recessive

- +Ve Gowers sign - uses hands to get up off floor

25
Q

Features of Fragile X

A

most common inherited cause of neuro-developmental delay
low set ears
long face, large head

26
Q

features of Williams Syndrome

A 
elfin face
very friendly + social child
short stature
elongated philtrum 
neonatal hypercalcaemia 
supravalvular aortic stenosis
27
Q

features of Noonan syndrome

A

‘male turners syndrome’

  • webbed neck
  • pulmonary stenosis
  • short stature
  • pectus excavatum
28
Q

risk of mother having child with Downs syndrome if

  • 40 years old
  • 45 years old
A

40 years = 1 in 100 risk

45 years = 1 in 50 risk

29
Q

what is androgen insensitivity

A

X linked recessive condition
male genotype (46 XY) but phenotypically female
- primary amenorrhoea
- groin swelling – undescended testes

Year 4: Paediatrics (16 decks)

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