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Paediatrics > genetics > Flashcards

genetics Flashcards

1
Q

clinical features of downs

A

hypotonic
single palmar crease
small stature
incurved 5th finger
dysmorphic features

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2
Q

dysmorphic features in downs

A

round face and flat nasal bridge
upslanted palpebral fissure
epicanthic folds
small mouth and protruding tongue
small ears

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3
Q

what does the combined screening test for and when does it happen

A

downs, edwards and pataus
10-14weeks

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4
Q

what is edwards syndrome and prognosis

A

trisomy 18
most end in miscarriage or stillbirth

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5
Q

what does turner syndrome mainly affect

A

height and sexual development
shorter than average and underdeveloped ovaries - lack of monthly periods and infertility

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6
Q

what does turner syndrome also result in (clinical presentation)

A

neck webbing
spoon shaped nails
widely spaced nipples
congenital heart defects

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7
Q

management for turner syndrome

A

growth hormone therapy
oestrogen replacement

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8
Q

what is klinefelter syndrome

A

extra X chromosome- 45 XXY

affects sexual, physical and intellectual development

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9
Q

clinical presentation of klinefelter syndrome- physical

A
  • tall stature
  • low muscle tone and strength
  • long arms and long legs
  • less facial and body hair
  • broad hips
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10
Q

clinical presentation of klinefelter syndrome- sexual

A
  • small penis and testicles
  • gynecomastia
  • infertility
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11
Q

health issues in klinefelters

A

DMT2
osteoporosis
heart disease and blood clots
male breast cancer

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12
Q

management for klinefelters

A

testosterone replacement therapy
physio
fertility treatment
breast reduction
psychological support

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13
Q

what is fragile X syndrome

A

x linked recessive disorder causing a mutation in the FMR1 gene
causes learning difficulties and social and behaviour problems

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14
Q

clinical features of fragile X syndrome

A

autism and ADHD
delay in speech and language development
learning difficulties
macrocephaly
large testicles after puberty

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15
Q

characteristic faces in fragile X syndrome

A

large everted ears
broad forehead
long face

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16
Q

what is prader-willi syndrome

A

genetic condition caused by the loss of functional genes on the proximal arm of chromosome 15 inherited from the father

17
Q

normal physiology of long arm of chromosome 15

A

imprinting- long arm of chromosome 15 from the mother is imprinted (deleted) so only the father’s is expressed

18
Q

pathophysiology of prader-willi syndrome

A

deletion of paternal prader-willi genes
mutation of imprinting mechanism
maternal uniparental disomy

19
Q

clincial features of prader-willi syndrome

A

hyperphagia
short
high pain and vomiting tolerance
hypotonia as an infant
mild/ moderate learning disability
fair soft skin prone to bruising

20
Q

characteristic face in prader willi syndrome

A

almond shaped eyes
narrow forehead
strabismus
thin upper lip
downturned mouth

21
Q

management of prader-willi syndrome

A

growth hormone
managing weight
limit access to food

22
Q

what are patients with prader-willi syndrome at a higher risk of

A

food poisoning
choking
stomach rupture

23
Q

what is noonan syndrome

A

autosomal dominant
affects normal development in various parts of the body

24
Q

associated conditions in noonan syndrome

A

congenital heart disease
learning disabilities
bleeding disorders
increased risk of leukaemia

25
Q

associated conditions in noonan syndrome specific to male

A

undescended testes
infertility

26
Q

clinical features of noonan syndrome

A

short
webbed neck
low set ears
broad forehead
ptosis
wide space between eyes

27
Q

what is angelman syndrome

A

genetic condition caused by the loss of functional genes (UBE3A gene) of chromosome 15 inherited from the mother

28
Q

clinical features of angelman syndrome

A

delayed development and learning disability
delayed or absence of speech development
fascination of water
laughing smiling
flapping hands

29
Q

associated conditons with angelman

A

epilepsy
ADHD

30
Q

appearance of angelman

A

fair skin
light hair
blue eyes

31
Q

what is williams synfrome

A

deletion in one copy of chromosome 7
characterised by cvs disease , learnign difficulties and development delays

32
Q

clinical presentation of williams syndrome

A

starburst eyes
broad forehead
very sociable and trsuting personality
wide mouth and widely spaced teeth
small chin
flattenede nasal brdige
affinoty for music

33
Q

assocaited conditions od wiliams syndrome

A

adhd
hypercalaemia
htn
supravalvular aortic stenosis

34
Q

what is patau syndrome

A

trisomy 13

Paediatrics (16 decks)

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