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Osha 3a > Paeds genetics > Flashcards

Paeds genetics Flashcards

1
Q

What is Down’s syndrome?

A
  • Trisomy 21
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2
Q

What are the physical features of Down’s syndrome?

A
  • flat face and nose
  • upward slanting eyes
  • hypotonia
  • brachycephaly (small head with flat back)
  • short stature
  • single palmar crease
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3
Q

What routine investigations do children with Down’s syndrome undergo?

A
  • thyroid checks
  • echocardiogram
  • audiometry
  • eye tests
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4
Q

What are the options for antenatal testing for Down’s?

A
  • Chorionic villus sampling: US guided biopsy of placental tissue (before 15 weeks)
  • amniocentesis: US guided aspiration
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5
Q

What other conditions are associated with Down’s syndrome?

A
  • AVSD
  • duodenal atresia
  • thyroid conditions
  • sleep apnoea
  • learning disability
  • alzheimer’s
  • ALL
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6
Q

What is the combined test?

A
  • performed 11-14 weeks gestation
  • ultrasound measures thickened nuchal translucency
  • high β-HCG and low PAPPA in bloods
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7
Q

What is the triple test for Down’s?

A
  • performed 14-20 weeks gestation
  • β-HCG: high
  • AFP: low
  • serum estriol: low
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8
Q

What additional factor does the quadruple test measure?

A
  • inhibin A: high
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9
Q

When is antenatal testing for Down’s offered?

A
  • when risk result from screening is greater than 1 in 150
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10
Q

What are the genetics of Turner syndrome?

A
  • female has single X chromosome
  • makes 45XO
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11
Q

What are the features of Turner syndrome?

A
  • short stature
  • webbed neck
  • broad chest and widely spaced nipples
  • cubitus valgus
  • high arching palate
  • late/incomplete puberty and infertility
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12
Q

How is Turner syndrome managed?

A
  • growth hormone therapy
  • oestrogen and progesterone
  • fertility treatment
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13
Q

What conditions are associated with Turner Syndrome?

A
  • coarctation of aorta
  • bicuspid aortic valve
  • recurrent otitis media
  • hypothyroidism
  • hypertension
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14
Q

What is Edward syndrome?

A
  • Trisomy 18
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15
Q

What are the features of Edward syndrome?

A
  • low set ears
  • small head and jaw
  • overlapping 4th and 5th fingers
  • rocker bottom feet
  • CHD: VSD
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16
Q

What is Patau’s syndrome?

A
  • Trisomy 13
17
Q

What are the features of Patau syndrome?

A
  • holoprosencephaly: hemispheres don’t fully separate
  • microcephaly
  • cleft lip and palate
  • polydactyly
  • CHD: VSD
18
Q

What is Klinefelter syndrome?

A
  • male has additional X chromosome: 47 XXY
  • can be more severe - 48 XXXY or 49 XXXXY
19
Q

What are the features of Klinefelter syndrome?

A
  • taller height
  • wider hips
  • gynecomastia
  • weaker muscles
  • small testicles, reduced libido and infertility
  • shyness
20
Q

What is the management of Klinefelter syndrome?

A
  • testosterone injections
  • advanced IVF techniques
  • breast reduction surgery
  • SALT, OT, physio
21
Q

What is William syndrome and which chromosome does it affect?

A
  • caused by deletion of genetic material on 1 copy of chromosome 7
  • random deletion around conception
22
Q

What are the features of William syndrome?

A
  • starburst eyes
  • sociable, trusting personality
  • wide mouth, widely spaced teeth
  • mild learning disability
  • small chin
  • flattened nasal bridge
23
Q

What conditions are associated with William Syndrome?

A
  • supravalcular aortic stenosis
  • hypercalcaemia
  • hypertension
  • ADHD
24
Q

What is the management of William syndrome?

A
  • echocardiogram
  • BP monitoring
  • low calcium diet
25
Q

What is Noonan syndrome and how is it inherited?

A
  • associated with deletion on chromosome 12
  • autosomal dominant
26
Q

What are the features of Noonan syndrome?

A
  • webbed neck
  • short stature
  • widely spaced nipples
  • hypertelorism: widely spaced eyes
27
Q

There is an increased risk of which conditions in Klinefelter syndrome?

A
  • breast cancer
  • osteoporosis
  • diabetes
  • anxiety and depression
28
Q

What conditions are associated with Noonan syndrome?

A
  • pulmonary valve stenosis
  • cryptorchidism > infertility
  • learning disability
  • bleeding disorders
  • lymphoedema
29
Q

What is Prader-Willi syndrome?

A
  • loss of functional genes on proximal arm of chromosome 15 from paternal side
30
Q

What are features of Prader-Willi syndrome?

A
  • constant insatiable hunger > obesity
  • hypotonia
  • learning disability
  • narrow forehead and almond eyes
  • mental health problems
31
Q

What is the management of Prader-Willi syndrome?

A
  • dieticians > limit access to food
  • growth hormone
  • physio, OT, psychologist
32
Q

What is Angelman syndrome?

A
  • loss of function of maternal UBE3A gene
  • caused by maternal deletion on chromosome 15 or inheritance of both from father
33
Q

What are features of Angelman syndrome?

A
  • fascination with water
  • happy demeanour
  • widely spaced mouth and teeth
  • learning disability
  • speech development delay
  • ataxia
34
Q

How is Angelman syndrome managed?

A
  • parental education
  • social services
  • physio and OT
  • CAMHS
  • anti-epileptic meds if required
35
Q

What is the difference between Angelman and Prader-Willi?

A
  • both have gene deletion on chromosome 15
  • Angelman: if maternal
  • Prader-Willi: if paternal
36
Q

What is fragile X syndrome?

A
  • caused by mutation in FMR1 gene on X chromosome
  • coding for fragile X mental retardation protein
37
Q

Who does fragile X syndrome affect?

A
  • X-linked
  • trinucleotide repeat
  • males always affected but females vary
38
Q

What are the features of fragile X syndrome?

A
  • intellectual disability
  • long, narrow face
  • large ears
  • hypermobile joints
  • ADHD/autism
  • seizures

Osha 3a (15 decks)

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