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Phase 3a - Paediatrics > Genetics > Flashcards

Genetics Flashcards

1
Q

What is Klinefelter syndrome?

A

When a male has an additional X chromosome making them 47 XXY instead of 46 XY.

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2
Q

Sx of Klinefelter syndrome?

A

Usually males look normal until puberty where they can develop:
* Taller height
* Wider hips
* Gynaecomastia
* Weaker muscles
* Small testicles
* Reduced libido + infertility
* Shyness

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3
Q

Mx of Klinefelter syndrome?

A
  • Testosterone injections
  • Breast reduction surgery - cosmetic purposes
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4
Q

Prognosis + complications of Klinefelter syndrome?

A

Life expectancy = normal

Inc. risk of:
* Breast cancer (compared to other males)
* Osteoporosis
* Diabetes
* Anxiety + depression

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5
Q

What is Turner syndrome?

A

When a female has a single X chromosome making it 45 XO instead of 46 XX.

O = empty space where other X chromosome should be.

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6
Q

Sx of Turner syndrome?

A
  • Short stature
  • Webbed neck
  • Widely spaced nipples
  • High arching palate
  • Downward sloping eyes w/ptosis
  • Cubitus valgus (abnormal elbow feature)
  • Infertility
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7
Q

Associated cdtns with Turner syndrome?

A
  • Recurrent otitis media
  • Recurrent UTI
  • Coarctation of the aorta
  • Hypothyroidism
  • HTN
  • Obesity
  • Diabetes
  • Osteoporosis
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8
Q

Mx of Turner syndrome?

A
  • Growth hormone therapy - prevent short stature
  • Oestrogen + progesterone replacement - establish female characteristics + regulate period
  • Fertility tx
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9
Q

What is Down’s syndrome?

A

Three copies of chromosome 21 (trisomy 21)

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10
Q

Sx of Down’s syndrome?

A
  • Hypotonia
  • Brachycephaly (flat head)
  • Short neck
  • Short stature
  • Flattened face and nose
  • Prominent epicanthic folds (folds of skin covering medial portion of eye + eyelid)
  • Single palmar crease
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11
Q

What are the antenatal screening tests for Down’s syndrome?

A
  • Combined test:1st line - Performed between 11 and 14 wks gestation, USS measures nuchal translucency (thickness back of neck of fetus, in DS the thickness >6mm)
  • Triple test:performed between 14 and 20 wks gestation, involves maternal blood test results therefore: higher Beta-HCG, lower Alpha-fetoprotein and lower serum oestriol indicate greater risk of Down’s syndrome.
  • Quadruple test:Identical to triple test but also icnludes maternal blood for inhibin-A (higher inhibin-A = greater risk)

When the previous test results provide a risk score of > 1 in 150, then further tests are done to give a definitive answer, which are:
* Chorionic villus sampling (CVS)
* Amniocentesis

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12
Q

Mx of Down’s syndrome?

A

Supportive care from the MDT and follow up Ix such as:
* Regular thyroid checks (2 yearly)
* Echo to diagnose cardiac defects
* Regular audiometry for hearing impairment
* Regular eye checks

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13
Q

What is Fragile X syndrome?

A

Mutation in the FMR1 (fragile X mental retardation 1) gene on the X chromosome. The FMR1 gene codes for the fragile X mental retardation protein, which plays a role in cognitive development in the brain.

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14
Q

What kind of genetic inheritance is Fragile X syndrome?

A

X-linked (unclear if dominant or recessive)

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15
Q

Sx of Fragile X syndrome?

A
  • Intellectual disability
  • Long, narrow face + large ears
  • Large testicles after puberty
  • Hypermobile joints (particularly in the hands)
  • ADHD
  • Autism
  • Seizures
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16
Q

Ix for Fragile X syndrome?

A

Genetic test that detects number of CGG repeats in FMR1 gene.

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17
Q

Mx of Fragile X syndrome?

A

MDT support + behavioural therapy

18
Q

What is Angelman syndrome?

A

Loss of function of the UBE3A gene specifically copy inherited from mother.

This can be caused by:
* Deletion on chromosome 15
* Specific mutation in this gene
* If two copies of chromosome 15 are contributed by father w/no copy from mother

19
Q

Sx of Angelman syndrome?

A
  • Unusual fascination w/water
  • Happy demeanour
  • Widely spaced teeth
  • Delayed development + learning disability
  • Severe delay + absence of speech development
  • Inappropriate laughter
  • Hand flapping
20
Q

What is Prader-Willi syndrome?

A

Loss of functional genes on the proximal arm of the chromosome 15 inherited from the father.

This can be due to:
* Deletion of this portion of chromosome
* When both copies of chromosome 15 are inherited from the mother.

21
Q

Sx of Prader-Willi syndrome?

A
  • Constant insatiable hunger (obesity)
  • Hypotonia
  • Mild-moderate learning disability
  • Hypogonadism
  • Fairer, soft skin that is prone to bruising
  • Narrow forehead
  • Downturned mouth
22
Q

Mx of Prader-Willi syndrome?

A
  • Growth hormone - improves muscle development + body compisition
  • Dietician
23
Q

What is Noonan syndrome?

A

An inherited autosomal dominant cdtn.

24
Q

Sx of Noonan syndrome?

A
  • Short stature
  • Broad forehead
  • Hypertelorism (wide space between eyes)
  • Downward sloping eyes w/ptosis
  • Low set ears
  • Webbed neck
25
Q

Associated cdtns to Noonan syndrome?

A
  • Congenital heart disease
  • Cryptorchidism (undescended testes)
  • Learning disability
  • Bleeding disorders
  • Lymphoedema
26
Q

What is William syndrome?

A

Deletion of genetic material on one copy of chromosome 7. It’s usually the result of a random deletion around conception.

27
Q

Sx of Williams syndrome?

A
  • Very sociable personality
  • Starburst eyes (a star-like pattern on the iris)
  • Wide mouth + widely spaced teeth
  • Flattened nasal bridge
  • Small chin
  • Mild learning difficulty
28
Q

Associated cdtns to Williams syndrome?

A
  • Supravalvular aortic stenosis (narrowing just above aortic valve)
  • ADHD
  • HTN
  • Hypercalcaemia
29
Q

What is muscular dystrophy?

A

Genetic cdtns that cause gradual weakening + wasting of muscles.

30
Q

What is Gower’s sign?

A

When children w/proximal muscle weak ess use a specific technique to stand up from a lying position - using their hands on their legs to help them stand up.

31
Q

What is Duchennes Muscular Dystrophy?

A

Defective gene for dystrophin (a protein that helps hold muscles together at cellular level) on the X-chromosome.

32
Q

What kind of genetic inheritance is Duchennes muscular dystrophy?

A

X-linked recessive

33
Q

Tx of Duchennes muscular dystrophy?

A
  • Oral steroids - slow progression of muscle weakness
  • Creatine supplementation - improvement in muscle strength
34
Q

What is Beckers muscular dystrophy?

A

Similar to Duchennes however dystrophin gene is less severely affected + maintains some of its function.

35
Q

How does Beckers muscular dystrophy progress?

A

Sx only start to appear around 8-12 yrs. Some pts require a wheelchair in their late 20s/30s whereas others are able to walk with assistance into adulthood.

36
Q

What is myotonic dystrophy?

A
  • Progressive muscle weakness
  • Prolonged muscle contractions
  • Cataracts
  • Cardiac arrhythmias

Example - pt is unable to let go after shaking someone’s hand or unable to release on doorknob after opening a door.

37
Q

What is Patau syndrome?

A

aka trisomy 13. Genetic disorder in which person has extra copy of chromosome 13.

38
Q

Sx of Patau syndrome?

A
  • Microcephalic (small head), small eyes
  • Cleft lip/palate
  • Polydactyly
  • Scalp lesions
39
Q

What is Edwards syndrome?

A

aka Trisomy 18. Presence of an extra copy of chromosome 18 and leads to severe developmental + physical challenges.

40
Q

Sx of Edward’s syndrome?

A

Phase 3a - Paediatrics (14 decks)

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