Phase 3a - Paediatrics > Genetics > Flashcards

Genetics Flashcards

(57 cards)

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1
Q

What is the pattern of mitochondrial inheritance?

A

Maternal - no mitochondria inherited from the father

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2
Q

What is the genetic pattern of Klinefelter Syndrome

A

Males have an additional X chromosome, so are 47XXY or even 48XXXY or even 49XXXXY

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3
Q

What are the clinical features of Klinefelter Syndrome?

A

Normal till puberty.
Female type pubic hair pattern with small testes.
Tall stature, slightly feminine, mildly impaired IQ and breast development
Osteoporosis
Shy, infertile, reduced libido and weak muscles

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4
Q

What are potential complications of Klinefelter Syndrome?

A
  • Diabetes
  • Anxiety/depression
  • Breast cancer
  • Osteoporosis
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5
Q

What is the management of Klinefelter Syndrome?

A
  • Testosterone injections
  • Advanced IVF to facilitate fertility
  • Breast reduction surgery
  • MDT support
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6
Q

What is the life expectancy of Klinefelter Syndrome?

A

Close to normal

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7
Q

What is the genetic pattern of Turner Syndrome and who is affected?

A

Female - single X chromosome so 45XO

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8
Q

What are the clinical features of Turner Syndrome?

A
  • Short stature, webbed neck, wide spaced nipples
  • High arched palate
  • Downward sloping eyes with ptosis
  • Broad chest, wide spaced nipples
  • cubitus valgus
  • Often infertile (poor ovary function)
  • Late/incomplete puberty
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9
Q

What is the elbow issue that characterizes Turner Syndrome?

A

Cubitus valgus

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10
Q

What is the management of Turner Syndrome?

A
  • GH therapy
  • Oestrogen + Progesterone replacement
  • Fertility treatment
  • Monitor for complications
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11
Q

Does Turner’s Syndrome reduce life expectancy?

A

Close to normal (slightly lower)

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12
Q

What are potential complications of Turner Syndrome?

A
  • HTN
  • Hypotension
  • Recurrent UTI
  • Obesity
  • Diabetes mellitus
  • Osteoporosis
  • Coarctation of aorta
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13
Q

What is genetic pattern of Down’s Syndrome?

A

Trisomy 21

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14
Q

Give some features of Down’s Syndrome?

A
  • Short neck and stature
  • Hypotonia
  • Brachycephaly
  • Flattened face and nose
  • Prominent epicanthic folds
  • Upward sloping palpebral fissures
  • Single palmar crease
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15
Q

What are some complications of Trisomy 21?

A
  • LD
  • Deafness
  • Cataracts, myopia, strabismus
  • Hypotension
  • Cardiac defects (1 in 3) –> ASD, VSD, patent ductus arteriosus, tetralogy of Fallot
  • Recurrent otitis media
  • Leukemia, dementia >prevalent
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16
Q

The combined test at 11-14 weeks gestation may be suggestive of Trisomy 21 if?

A

US measure nuchal translucency as >6mm.

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17
Q

The combined test at 11-14 weeks gestation may be suggestive of Trisomy 21 should the levels of maternal Beta-HCG and PAPPA be?

A
  • Maternal Beta-HCG: high
  • Maternal PAPPA: low
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18
Q

The triple test is performed at what week gestation?

A

14 to 20 weeks

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19
Q

What levels of the triple test will be indicative of potential Trisomy 21 diagnosis?

A
  • Beta-HCG: high = >risk
  • AFP: low = >risk
  • Serum oestriol: low = >risk
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20
Q

The quadruple test to include inhibin-A what is the level that suggests increased risk of Trisomy 21?

A

Higher is bad

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21
Q

5% of women are deemed as greater than 1 in 150 risk, what is offered to them?

A

Amniocentesis or chorionic villus sampling (CVS)

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22
Q

The management of Trisomy 21 is done through an MDT approach due to its complex nature, which teams are required for regular check-ups and why?

A
  • Thyroid checks: every 2 years
  • Echocardiogram: cardiac monitoring
  • Audiometry: hearing impairment
  • Regular eye appointments
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23
Q

How are Edward’s Syndrome and Patau Syndrome diagnosed?

Study These Flashcards
A

Antenatally by amniocentesis and chromosome analysis

24
Q

At which trimester of pregnancy are Edward’s syndrome and Patau Syndrome detected?

Study These Flashcards
A

2nd trimester of pregnancy

25
What are the genetic mutations seen in Edward's syndrome and Patau syndrome?
Trisomy 18 and Trisomy 13 respectively
26
What are the clinical features of Edward's syndrome?
- Low birthweight - Rocker-bottom feet - Small mouth and chin, prominent occiput - Short sternum, cardiac, renal malformations - Fixed, overlapping finger
27
What are the clinical features of Patau's syndrome?
- Brain structural defect - Scalp defect - Small eyes, eye defects - Cleft lip and palate - Polydactyly - Cardiac and renal malformations
28
What is the genetic mutation of Fragile X Syndrome?
Mutation in the FMR1 gene on the X-chromosome
29
How is Fragile X Syndrome diagnosed?
Molecular analysis of CGG trinucleotide repeat expansion of FMR1 --> all mothers of affected males are carriers
30
What are the clinical features of Fragile X Syndrome?
- Moderate to severe learning difficulty (IQ 20-80, mean 50) - Macrocephaly - Macro-orchidism (post-pubertal) - Autism, hyperactivity - Long face, long everted ears, prominent mandible, broad forehead. - Mitral valve prolapse
31
What are the facial features of Fragile X Syndrome?
Long, large everted ears, prominent mandible and broad forehead
32
Does Fragile X syndrome reduce one's life expectancy?
Similar to the general population, but depends on associated disabilities and complications.
33
What is muscular dystrophy?
Umbrella term for genetic conditions that cause gradual weaking and muscular wastage
34
What is the genetic pattern of Duchenne's muscular dystrophy?
X-linked recessive, defective gene for dystrophin
35
Should a mother be a carrier for the defective dystrophin gene then what are the risks that their children will have this pathology?
Girl - 50% chance they are carrier Boy - 50% chance they will be affected
36
What are the clinical features of Duchenne's Muscular dystrophy?
- Present around 3-5 years with weakness around the pelvis, using their hands on their legs to stand up - Wheelchair bound by teens, LE: 25-35 years.
37
“5YO boy presenting with vague symptoms of muscle weakness and use hands on their legs to help in standing up” What is the sign? What is dx?
Duchenne's Muscular Dystrophy 5 years old
38
What are the management for Duchenne's Muscular Dystrophy?
- PO steroids - slow progression of muscular weakness by ~2 years - Creatine supplements give slight improvement in muscle strength
39
What is the difference between Becker's Muscular dystrophy and Duchenne's muscular dystrophy?
Becker's will present later (symptoms around 8-12 years old) and the patient will be in a wheelchair by late 20-30s, potentially even being able to walk with assistance in late adulthood.
40
“Patient struggles to let go when they have finished shaking your hand, as well as struggling to release their grip on doorknobs, what is the possible diagnosis?”
Myotonic dystrophy - prolonged muscle contractions
41
Facioscapulohumeral Muscular Dystrophy clinical features?
Weakness around the face progressing to the shoulders and arms Sleep with eyes slightly open Weakness in pursing lips
42
Oculopharyngeal Muscular Dystrophy clinical features?
- Bilateral ptosis - Restricted eye movement - Swallow issues - Limb girdle weakness
43
What is the genetic mutation that characterizes Angelman Syndrome?
Deletion on Cr15 causing a loss of function of the UBE3A gene
44
How many mutated copies of genes on which chromosome are required for Angelman syndrome (think from mother and father)?
- One from mother specifically - Two from father (0 from mother)
45
A child comes across as very happy. You observe that they have slightly wide spaced teeth and often appear very interested in water. What is a potential diagnosis?
Angelman Syndrome
46
Other than widely spaced teeth, happy demeanor and fascination with water, what are the other clinical signs of Angelman Syndrome?
- Ataxia, delayed development and learning disability - Hand flapping, abnormal sleep patterns - ADHD - Inappropriate laughter and hand flapping - Epilepsy
47
Genetic inheritance pattern of Prader-Willi Syndrome?
Loss of functional genes on proximal arm of Cr15 inherited from the father (deletion or both copies inherited from mother)
48
Characteristic features of a child with Prader-Willi Syndrome?
Constant insatiable hunger leading to obesity - Hypogonadism, hypotonia as infant, mild-moderate learning disability - MH problems - anxiety
49
What is the management of Prader-Willi syndrome?
GH - improve muscle development and body composition Supportive care (MDT) Control calorie intake
50
What is the genetic inheritance pattern of Noonan Syndrome?
Autosomal dominant condition
51
Key clinical signs of Noonan syndrome?
- Wispy hair - HYPERTELORISM (thickly hooded eyes) - Discolored spots on skin - Swollen feet - Shot stature, broad forehead
52
What is a key complication of Noonan syndrome that may require intervention?
Congenital heart disease - often requires corrective surgery
53
What is the genetic mutation in William Syndrome?
Deletion of genetic material on Cr7 gene - random deletion around time of conception
54
A child comes into clinic who you observe as very sociable with a wide mouth, large ears and a big smile. What is the potential diagnosis?
William syndrome
55
William Syndrome is associated with what two conditions for which regular management and control is required?
1. Supravalvular aortic stenosis 2. Hypercalcemia
56
What is the management of William Syndrome?
- MDT - Regular Echo, BP monitoring aortic stenosis and HTN - Low calcium diet to control hypercalcemia
57
What food products must Williams syndrome patients be cautious with?
Calcium and vitamin D (due to hypercalcemia)
Phase 3a - Paediatrics
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