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Phase 3a - Paediactrics > Genetics > Flashcards

Genetics Flashcards

1
Q

Klinefelter Syndrome

A

An additional X chromosome for men making them 47 XXY

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2
Q

Presentation of Klinefelter Syndrome

A
  • Taller height - Wide hips - Gynaecomastia
  • Weaker muscles
  • Small testicles
  • Reduced libido
  • Shyness
  • Infertility
  • Subtle learning difficulties
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3
Q

Management of Klinefelter Syndrome

A

Testosterone injections - Advanced IVF techniques can potentially allow for IVF - Breast reduction surgery - MDT input to improve speech, language, strengthen muscles and provide education support.

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4
Q

Complications of Klinefelter Syndrome

A

There is an increased risk of breast cancer, osteoporosis, diabetes and anxiety

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5
Q

Turners Syndrome

A

Occurs when a female has a single X chromosome, making them 45 XO

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6
Q

Presentation of Turners Syndrome

A
  • Short stature - Webbed neck - Widely spaced nipples with broad chest - High arching palate - Downward sloping with ptosis - Underdeveloped ovaries with reduced function - Late or incomplete puberty - Most women are infertile
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7
Q

Associated Conditions with Turners Syndrome

A
  • Recurrent otitis media - Recurrent UTI - Hypothyroidism - Hypotension - Obesity - Diabetes
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8
Q

Management of Turners Syndrome

A

Growth hormone therapy can help with short stature - Oestrogen and progesterone replacement can help establish female sex characteristics, regulate menstrual cycle and prevent osteoporosis - Regular monitoring is needed for the associated conditions

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9
Q

Complications of Turners Syndrome

A

aortic problems, osteoporosis, autoimmune conditions, frequent otitis media, eye problems, horseshoe kidney, bicuspid aortic valve

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10
Q

Downs Syndrome

A

3 copies of chromosome 21

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11
Q

Presentation of Downs Syndrome

A

Hypotonia - Small head with flat back - Short neck - Short stature - Flattened face and nose - Low set ears - Single palmar crease - Prominent epicanthic folds (folds of skin covering the medial portion of the eye and eyelid) - Upward sloping palpebral fissures (gaps between the upper and lower eyelid)

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12
Q

Ix for Downs Syndrome

A

Antenatal Screening, Combined Test, Triple Test, Quadruple Test

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13
Q

Antenatal Screening for Downs Syndrome

A

This is offered to screen for chances of Down’s syndromes where further investigations will take place if necessary. Older mothers generally have a higher risk

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14
Q

Combined Test for Downs Syndrome

A

Performed at 11-14 weeks gestation and combines ultrasound results looking at thickness on the back of the neck of the foetus (thickened) and beta-HCG (raised) and PAPPA (reduced)

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15
Q

Triple Test for Downs Syndrome

A

Performed at 14-20 weeks and looks at beta-HCG (raised), AFP (low) and serum oestriol (low)

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16
Q

Quadruple Test for Downs Syndrome

A
  • Same as triple test but also includes inhibin-A (high)
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17
Q

Management of Downs Syndrome

A

MDT approach involves every medical professional and regular screening of the complications include echo, regular thyroid checks, regular eye checks and audiometry

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18
Q

Complications of Downs Syndrome

A
  • Learning disability - Recurrent otitis media - Deafness - Visual problems such as strabismus - Hypothyroidism - Cardiac defects such as ASD, VSD - Leukaemia - Dementia
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19
Q

Edwards Syndrome

A

Trisomy 18

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20
Q

Presentation of Edwards Syndrome

A
  • Low birthweight - Small mouth and chin - Short sternum - Flexed, overlapping fingers - ‘Rocker-bottom feet’ - Cardiac and renal malformations
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21
Q

Complications of Edwards Syndrome

A

-90% have heart defect (PDA, ToF, CoA), developmental delays and severe learning disability, decreased muscle tone, decreased tone in airways

22
Q

Prognosis of Edwards Syndrome

A

Most die before birth, some can live up to a year

23
Q

3 types of Edwards Syndrome

A

Full , Partial, Mosaic

24
Q

Patau Syndrome

A

Trisomy 13

25
Q

3 Types of Patau Syndrome

A

Full , Partial, Mosaic

26
Q

Median Survival of Patau Syndrome

A

~ 1 week

27
Q

Presentation of Patau Syndrome

A

Structural defects of the brain - Scalp defects - Small eyes and other eye defects - Cleft lip and palate - Polydactyly
- Cardiac and renal malformations

28
Q

Fragile X Syndrome is caused by __

A

a mutation in the FMR1 gene on the X chromosome which codes for fragile X mental retardation protein which plays a role in cognitive development in the brain.

29
Q

Inheritance of Fragile X Syndrome

A

X linked but unknown if dominant or recessive - Males are always affected and females vary in how they are affected due to the other X chromosome

30
Q

Presentation of Fragile X Syndrome

A

Delay in speech and language development - Intellectual disability - Long, narrow face - Large ears - Large testicles after puberty - Hypermobile joints (particularly in the hands) - ADHD - Autism - Seizures

31
Q

Management of Fragile X Syndrome

A
  • Supportive for treating the symptoms and complications
32
Q

Duchenne Muscular Dystrophy

A

Affecting around 1 in 4000 male infants, this is an inherited X linked recessive disorder resulting from a deletion on the short arm of the X chromosome.

33
Q

Pathophysiology of Duchenne Muscular Dystrophy

A

This site codes for a protein called dystrophin which normally connects the cytoskeleton of muscle fibres to the extracellular matrix through the cell membrane therefore deficiency results in myofiber necrosis and raised serum CPK.

34
Q

Presentation of Duchenne Muscular Dystrophy

A
  • Waddling gait + slow at running + mount stairs one by one - Language delay - Gower’s sign - they need to turn prone to rise up from the floor - Pseudohypertrophy of the calves as the muscular tissue is replaced by fat/fibrous tissue - Boys will be slower and clumsier than their peers - They will no longer be able to walk by around 10-14 years due to the progressive muscular atrophy
35
Q

Management of Duchenne Muscular Dystrophy

A
  • Exercises to help maintain muscle power and mobility - Night splints and passive stretching - Good sitting posture helps reduce the likelihood of scoliosis - Corticosteroids can be given to help preserve mobility and prevent scoliosis
36
Q

Becker Muscular Dystrophy

A
  • Some functional dystrophin is produced therefore the features are similar as DMD however the disease progresses more slowly with age on onset being later.
37
Q

Angelman Syndrome

A

Loss of function of the UBE3A gene on the copy inherited from the mother caused by a deletion on chromosome 15.

38
Q

Presentation of Angelman Syndrome

A

Delayed development and learning disability - Severe delay or absence of speech development - Fascination with water - Happy demeanour - Widely spaced teeth - Inappropriate laughter - Abnormal sleep patterns - Epilepsy - ADHD - Dysmorphic features - Fair skin, light hair and blue eyes

39
Q

Management of Angelman Syndrome

A

MDT approach to managing individual problems

40
Q

Prader-Willi Syndrome

A

A genetic condition caused by loss of functional genes on the proximal arm of chromosome 15 inherited from the father which can be due to deletion of this portion or when both copies are inherited from the mother.

41
Q

Presentation of Prader-Willi Syndrome

A

Constant insatiable hunger that leads to obesity - Hypotonia as an infant - Learning disability - Fairer, softer skin that is prone to bruising - Mental health problems such as anxiety - Dysmorphic features - Narrow forehead - Almond shaped eyes - Strabismus - Thin upper lip - Hypogonadism

42
Q

Management of Prader-Willi Syndrome

A

No cure - Dietician management to control weight - Growth hormone is indicated by NICE to improve muscle development and body composition - Psychologists/Psychiatrists can help tackle mental health problems

43
Q

Noonan Syndrome

A

A genetic condition which is mainly autosomal dominant

44
Q

Presentation of Noonan Syndrome

A

Short stature - Broad forehead - Downward sloping eyes with ptosis - Wide space between the eyes - Low set ears - Webbed neck - Widely spaced nipples

45
Q

Associated Conditions with Noonan Syndrome

A

Congenital heart disease, particularly pulmonary stenosis, hypertrophic cardiomyopathy and ADD - Undescended testes leading to infertility in males - Learning disability - Bleeding disorders - Increased risk of leukaemia

46
Q

Management of Noonan Syndrome

A
  • Supportive management with the MDT - Often corrective heart surgery is needed for the congenital heart disease
47
Q

William Syndrome

A

Deletion of epigenetic material on one copy of chromosome 7 resulting in just a single copy of the genes - usually due to a random deletion during conception.

48
Q

Presentation of William Syndrome

A

Broad forehead - Starburst eyes (star like pattern on the iris) - Flattened nasal bridge - Very sociable, trusting personality - Wide mouth with widely spaced teeth - Small chin

49
Q

Management of William Syndrome

A

MDT approach to managing individual problems

50
Q

Complications of William Syndrome

A

Supravalvular aortic stenosis - ADHD - Hypertension - Hypercalcaemia

Phase 3a - Paediactrics (17 decks)

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