Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Phase 3a - Paediatrics > Genetics > Flashcards

Genetics Flashcards

1
Q

What is the pattern of mitochondrial inheritance?

A

Maternal - no mitochondria inherited from the father

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What are potential complications of Klinefelter Syndrome?

A
  • Diabetes
  • Anxiety/depression
  • Breast cancer
  • Osteoporosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the management of Klinefelter Syndrome?

A
  • Testosterone injections
  • Advanced IVF to facilitate fertility
  • Breast reduction surgery
  • MDT support
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is the life expectancy of Klinefelter Syndrome?

A

Close to normal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

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

A

Female - single X chromosome so 45XO

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is the elbow issue that characterizes Turner Syndrome?

A

Cubitus valgus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is the management of Turner Syndrome?

A
  • GH therapy
  • Oestrogen + Progesterone replacement
  • Fertility treatment
  • Monitor for complications
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Does Turner’s Syndrome reduce life expectancy?

A

Close to normal (slightly lower)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What are potential complications of Turner Syndrome?

A
  • HTN
  • Hypotension
  • Recurrent UTI
  • Obesity
  • Diabetes mellitus
  • Osteoporosis
  • Coarctation of aorta
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is genetic pattern of Down’s Syndrome?

A

Trisomy 21

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

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

A

US measure nuchal translucency as >6mm.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

The triple test is performed at what week gestation?

A

14 to 20 weeks

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

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

A

Higher is bad

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

How are Edward’s Syndrome and Patau Syndrome diagnosed?

A

Antenatally by amniocentesis and chromosome analysis

24
Q

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

A

2nd trimester of pregnancy

25
Q

What are the genetic mutations seen in Edward’s syndrome and Patau syndrome?

A

Trisomy 18 and Trisomy 13 respectively

26
Q

What are the clinical features of Edward’s syndrome?

A
  • Low birthweight
  • Rocker-bottom feet
  • Small mouth and chin, prominent occiput
  • Short sternum, cardiac, renal malformations
  • Fixed, overlapping finger
27
Q

What are the clinical features of Patau’s syndrome?

A
  • Brain structural defect
  • Scalp defect
  • Small eyes, eye defects
  • Cleft lip and palate
  • Polydactyly
  • Cardiac and renal malformations
28
Q

What is the genetic mutation of Fragile X Syndrome?

A

Mutation in the FMR1 gene on the X-chromosome

29
Q

How is Fragile X Syndrome diagnosed?

A

Molecular analysis of CGG trinucleotide repeat expansion of FMR1
–> all mothers of affected males are carriers

30
Q

What are the clinical features of Fragile X Syndrome?

A
  • 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
Q

What are the facial features of Fragile X Syndrome?

A

Long, large everted ears, prominent mandible and broad forehead

32
Q

Does Fragile X syndrome reduce one’s life expectancy?

A

Similar to the general population, but depends on associated disabilities and complications.

33
Q

What is muscular dystrophy?

A

Umbrella term for genetic conditions that cause gradual weaking and muscular wastage

34
Q

What is the genetic pattern of Duchenne’s muscular dystrophy?

A

X-linked recessive, defective gene for dystrophin

35
Q

Should a mother be a carrier for the defective dystrophin gene then what are the risks that their children will have this pathology?

A

Girl - 50% chance they are carrier
Boy - 50% chance they will be affected

36
Q

What are the clinical features of Duchenne’s Muscular dystrophy?

A
  • 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
Q

“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?

A

Duchenne’s Muscular Dystrophy
5 years old

38
Q

What are the management for Duchenne’s Muscular Dystrophy?

A
  • PO steroids - slow progression of muscular weakness by ~2 years
  • Creatine supplements give slight improvement in muscle strength
39
Q

What is the difference between Becker’s Muscular dystrophy and Duchenne’s muscular dystrophy?

A

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
Q

“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?”

A

Myotonic dystrophy - prolonged muscle contractions

41
Q

Facioscapulohumeral Muscular Dystrophy clinical features?

A

Weakness around the face progressing to the shoulders and arms
Sleep with eyes slightly open
Weakness in pursing lips

42
Q

Oculopharyngeal Muscular Dystrophy clinical features?

A
  • Bilateral ptosis
  • Restricted eye movement
  • Swallow issues
  • Limb girdle weakness
43
Q

What is the genetic mutation that characterizes Angelman Syndrome?

A

Deletion on Cr15 causing a loss of function of the UBE3A gene

44
Q

How many mutated copies of genes on which chromosome are required for Angelman syndrome (think from mother and father)?

A
  • One from mother specifically
  • Two from father (0 from mother)
45
Q

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?

A

Angelman Syndrome

46
Q

Other than widely spaced teeth, happy demeanor and fascination with water, what are the other clinical signs of Angelman Syndrome?

A
  • Ataxia, delayed development and learning disability
  • Hand flapping, abnormal sleep patterns
  • ADHD
  • Inappropriate laughter and hand flapping
  • Epilepsy
47
Q

Genetic inheritance pattern of Prader-Willi Syndrome?

A

Loss of functional genes on proximal arm of Cr15 inherited from the father (deletion or both copies inherited from mother)

48
Q

Characteristic features of a child with Prader-Willi Syndrome?

A

Constant insatiable hunger leading to obesity
- Hypogonadism, hypotonia as infant, mild-moderate learning disability
- MH problems - anxiety

49
Q

What is the management of Prader-Willi syndrome?

A

GH - improve muscle development and body composition
Supportive care (MDT)
Control calorie intake

50
Q

What is the genetic inheritance pattern of Noonan Syndrome?

A

Autosomal dominant condition

51
Q

Key clinical signs of Noonan syndrome?

A
  • Wispy hair
  • HYPERTELORISM (thickly hooded eyes)
  • Discolored spots on skin
  • Swollen feet
  • Shot stature, broad forehead
52
Q

What is a key complication of Noonan syndrome that may require intervention?

A

Congenital heart disease - often requires corrective surgery

53
Q

What is the genetic mutation in William Syndrome?

A

Deletion of genetic material on Cr7 gene - random deletion around time of conception

54
Q

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?

A

William syndrome

55
Q

William Syndrome is associated with what two conditions for which regular management and control is required?

A
  1. Supravalvular aortic stenosis
  2. Hypercalcemia
56
Q

What is the management of William Syndrome?

A
  • MDT
  • Regular Echo, BP monitoring aortic stenosis and HTN
  • Low calcium diet to control hypercalcemia
57
Q

What food products must Williams syndrome patients be cautious with?

A

Calcium and vitamin D (due to hypercalcemia)

Phase 3a - Paediatrics (11 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions