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3a > Paediatrics: Genetics > Flashcards

Paediatrics: Genetics Flashcards

1
Q

What is mocaism ?

A

chromosomal abnormality occurs after conception (occurs in some cell + not others) => different genetic material in different cells in body

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2
Q

What is patau syndrome ? what chromosome affected ?

A

genetic abnormality - trisomy 13

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3
Q

patau and Edwards syndrome features ?

A
  • Dysmorphic features
  • Structural Abnormailites
  • LD
  • Rocker bottom feet
    (quite similar presentation)
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4
Q

what is Edwards syndrome ? what chromosome affected ?

A

trisomy 18

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5
Q

what is the prognosis for patios and Edwards syndromes ?

A

babies usually do not survive longer than a week
- about 10% live to 5 yrs
(about the same for both)

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6
Q

what are the dysmophric symptoms of Down’s syndrome ? (8)

A
  • Flattened face
  • almond shaped eyes that slant up
  • short neck
  • small ears
  • prominent epicantic folds
  • single palmar crease
  • tongue tends to stick out of mouth
  • increased gap between great toe and first toes
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7
Q

Complications of downs syndrome ?

A
  • LD
  • recurrent otitis media
  • Deafness
  • visual prblems
  • Cardiac defects
  • leukaemia
  • dementia
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8
Q

what cardiac defects are associated with trisomy 21 ?

A

AVSD
ASD
VSD
PDA
ToF

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9
Q

downs syndrome management ? (4)

A

MDT approach
- Routine follow up: thyroid checks, echo, auditory, eye checks

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10
Q

What is Kleinfelter syndrome ? what chromosome affected ? males or females affected ?

A

occurs when male has an additional X chromosome (47 XXY)
(or 48 XXXY, 49 XXXXY)

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11
Q

features of kleifelters syndrome ? what age does it typically present ? (8)

A

appear as normal males until puberty
- Taller height
- Wider hips
- Gynaecomastia
- weak muscles
- small testicles
- low libido
- Infertility
- Subtle LD

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12
Q

kelinfelter syndrome managment ? (3)

A

no treatment
- Testosterone injections, IVF, breast reduction surgery

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13
Q

Down syndrome prognosis ? (life expectancy)

A

life expectancy: 60 yrs

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14
Q

Kleinfelter life expectancy ?

A

close to normal

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15
Q

What is Turner syndrome ? what chromosome affected ? males or females affected ?

A

occurs when a female has a single X chromosome (45 XO)

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16
Q

Turner syndrome features ? Maine 3 ? (6)

A
  • Short stature
  • Webbed neck
  • Wide spaced nipples
  • underdeveloped ovaries with reduced function
  • late puberty
  • infertility
17
Q

complications of turners syndrome ? (6)

A
  • recurrent otitis media
  • Recurrent UTI
  • Coarctation of the aorta
  • Hypothyroidism
  • DM
  • LD
18
Q

Turner syndrome management ?

A
  • GH therapy (short stature)
  • Oestrogen + progesterone (secondary sex characteristics + regulate menstrual cycle)
  • Fertility treatment
19
Q

What is Noonan syndrome ? what chromosome ? what inheritance ?

A

genetic condition caused by several different genes
- mostly autosomal dominant

20
Q

Noonan syndrome features ? (6)

A
  • Short stature
  • Broad forehead
  • Wide spaced eyes
  • Low set ears
  • Webbed neck
  • Widely spaced nipples
21
Q

what is fragile x syndrome ? what chromosome ? what inheritance ?

A

caused by a mutation in the FMR1 gene (fragile Mental retardation 1 gene) on chromosome X
- x-linked condition (unclear if dominant or recessive)

22
Q

fragile x syndrome features ?

A
  • usually present with delay in speech + language
  • LD
  • Long narrow face
  • Large ears
  • Large testicles
  • ADHD/ASD
  • Seizures
23
Q

fragile x syndrome management ?

A

supportive + treating symptoms

24
Q

What is Prader-Willi syndrome ? what chromosome ?

A

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

25
Q

Prader-Willi syndrome features ?

A
  • constant insatiable hunger (=> obesity)
  • hypotonia
  • Mild-mod LD
  • Hypogonadism
  • Anxiety
26
Q

Prader-Willi management ? (2)

A

MDT approach
- limit access to food to control weight
- GH (to improve muscle dev + body composition)

27
Q

What is Angelman syndrome ? which chromosome ?

A

loss of function of UBEA3A gene on chromosome 15

28
Q

Angelman syndrome features ?

A
  • fascination with water
  • Happy demenour
  • Widely spaced teeth
  • epilepsy
29
Q

what is William syndrome ? what chromosome affected ?

A

caused by deletion of genetic material on one copy of chromosome 7

30
Q

William syndrome features ?

A
  • very sociable personality (trusting)
  • Starburst eyes
  • Wide mouth (big smile)
  • LD
31
Q

what is William syndrome associated with ? What heart murmur?

A
  • supravalvular aortic stenosis
  • Hypercalcaemia
32
Q

William syndrome manamgnet ? (1)

A

MDT approach
- low calcium diet (due to prone to hypercalcaemia)

33
Q

What is Kallman syndrome ?

A

Kallman syndrome is a genetic condition causing hypogonadotrophic hypogonadism, resulting in failure to start puberty. It is associated with a reduced or absent sense of smell (anosmia).

34
Q

A young boy is noted to have a webbed neck, pulmonary stenosis, ptosis and short stature. The karyotype is normal. what is this?

A

Noonan syndrome

35
Q
A

3a (43 decks)

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