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
associated conditions in noonan syndrome specific to male
undescended testes infertility
26
clinical features of noonan syndrome
short webbed neck low set ears broad forehead ptosis wide space between eyes
27
what is angelman syndrome
genetic condition caused by the loss of functional genes (UBE3A gene) of chromosome 15 inherited from the mother
28
clinical features of angelman syndrome
delayed development and learning disability delayed or absence of speech development fascination of water laughing smiling flapping hands
29
associated conditons with angelman
epilepsy ADHD
30
appearance of angelman
fair skin light hair blue eyes
31
what is williams synfrome
deletion in one copy of chromosome 7 characterised by cvs disease , learnign difficulties and development delays
32
clinical presentation of williams syndrome
starburst eyes broad forehead very sociable and trsuting personality wide mouth and widely spaced teeth small chin flattenede nasal brdige affinoty for music
33
assocaited conditions od wiliams syndrome
adhd hypercalaemia htn supravalvular aortic stenosis
34
what is patau syndrome
trisomy 13