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3A > Paediatric Genetics > Flashcards

Paediatric Genetics Flashcards

1
Q

What are the genetics of fragile x?

A

Expansion of the trinucleotide repeat CGG in the FMRI gene on the X chromosome

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2
Q

How many cgg repeats cause fragile x

A

Over 200

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3
Q

How does fragile x present?

A

Long face, protruding ears, intellectual impairment, post pubertal macroorchidism, social anxiety, features of autism

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4
Q

what cardiac condition is most associated with turners

A

a bicuspid aortic valve

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5
Q

What murmur is commonly heard in turners syndrome and why?

A

a cescendo -decrescendo ejection systolic murmur
due to bicuspid aortic valve

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6
Q

What is the most serious long term health condition associated with Turner’s syndrome

A

aortic dissection

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7
Q

How does williams syndrome present?

A

very friendly social affect
elfin-like facies
learning difficulties,
short stature
transient neonatal hypercalcaemia
supravalvular aortic stenosis

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8
Q

what genetic abnormality causes william’s syndrome?

A

microdeletion on chromosome 7

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9
Q

In a child with haemophilia which relative is most likely to have it?

A

maternal uncle, maternal grandfather etc- boys get their X chromosome from their mother so will need to be from the maternal side

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10
Q

What is the inheritance of prader-willi?

A

imprinting

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11
Q

If a female has haemophilia, what genetic condition might they have and why?

A

Turner’s
Haemophilia is x linked recessive- Turner’s only have one x chromosome so may develop x linked conditions

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12
Q

what chromosome is most commonly affected in patau syndrome

A

13

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13
Q

Presentation of prader - willi sydrome

A

hypotonia during infancy
poor suck
weak cry
dysmorphic features
short stature
hypogonadism
learning difficulties
childhood obesity

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14
Q

genetics of prader willi

A

microdeletion of paternal 15q11-13

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15
Q

is prader willi inherited from father or mother

A

father

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16
Q

genetics of fragile X

A

expansion of the CGG trinucleotide repeate on the FMRI gene on the X chromosome

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17
Q

Is fragile X transmitted from the mother or father ?

A

almost always mother as X chromosome

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18
Q

How does fragile X present?

A

long face
protruding ears
intellectual impairment
post-pubertal macroorchidism
social anxiety
ASD features

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19
Q

Genetics of turners syndrome

A

loss or abnormality of the second X chromosome in girls
Denoted 45 X

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20
Q

How does turners syndrome present

A

short stature,
amenorrhoea (ovarian dysgenesis),
widely spaced nipples
neck webbing
delayed puberty
lymphoedema of hands and feet in neonate
hypothyroidism

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21
Q

what congenital cardiac abnormalities may be present in turner’s syndrome

A

bicuspid aortic valve and coarctation of the aorta

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22
Q

What cardiac conditions can cause long term health problems for those with turners syndrome

A

aortic dilation and dissection

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23
Q

what renal condition may be associated with turner’s syndrome

A

horseshoe kidney

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24
Q

what endocrine condition is increased in turners syndrome

A

hypothyroidism

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25
Q

Genetics of angelman syndrome

A

loss of the maternal UBE3A gene caused by a deletion on chromosome 15

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26
Q

How does Angelman syndrome present

A

happy demanour
fascination with water
delayed development and learning disability
widely spaced teeth
coordination and balance problems
epilepsy

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27
Q

What are the genetics of williams syndrome?

A

microdeletion on chromosome 7

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28
Q

how does williams syndrome present?

A

elfin-like facial features
very friendly affect
starburst eyes
flatterned nasal bridge
wide mouth and widely space teeth
learning difficulties

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29
Q

what are 2 associated conditions with williams syndrome

A

transient neonatal hypercalcaemia
supravalvular aortic stenosis

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30
Q

how is williams syndrome diagnosed

A

fish studies

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31
Q

Genetics of noonan syndrome

A

autosomal dominant condition- defect on chromosome 12

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32
Q

How does noonan syndrome present

A

similar to turners :
- webbed neck
- widely spaced nipples
- short stature
- pectus carinatum and excavatum

Other features:
- pulmonary valve stenosis (newborn with have a murmur)
- ptosis
-crytorchidism
- delayed puberty
- factor XI deficiency

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33
Q

diagnosis of noonan syndrome

A

Genetic testing
Echo
Coagulation profile

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34
Q

Genetics of DiGeorge syndrome

A

deletion in chromosome 22

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35
Q

What is another name for digeorge syndrome

A

velocardiofacial syndrome

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36
Q

Triad of DiGeorge syndrome

A

cardiac abnormalities
hypoplastic thymus
hypocalcaemia (due to parathyroid hypoplasia)

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37
Q

Why do you get immunodeficiency in DiGeorge’s syndrome ?

A

as there is hypoplasia of the thymus leading to a lack of T cells.

38
Q

Presentation of DiGeorge’s syndrome

A

cardiac abnormalities- murmur, HF
cleft lip and palate
immunodeficiency
cognitive impairment
growth failure
schizophrenia
hypocalcaemia- seizures, tetany

39
Q

How is digeorge’s syndrome diagnosed?

A

Genetic karyotyping
Serum calcium and PTH
T cell count
Echo

40
Q

Pathophysiology of DiGeorge’s syndrome

A

disruption of the development of the pharyngeal arches and pouches

41
Q

Genetics of patau syndrome

A

trisomy 13

42
Q

presentation of patau syndrome

A

microcephaly
small eyes
cleft lip and palate
polydactyl
scalp lesions
cardiac and renal malformations

43
Q

What are muscular dystrophies?

A

genetic diseases characterised by progressive degeneration and weakness of specific muscle groups

44
Q

inheritance of duchenne’s muscular dystrophy

A

x linked recessive

45
Q

genetics of duchenne muscular dystrophy

A

a mutation in the dystrophin gene on the x chromosome

46
Q

What is Becker’s muscular dystrophy

A

a milder form of duchenne’s muscular dystrophy, less effective dystrophin gene but sme function maintained

47
Q

characteristic feature of myotonic muscular dystrophy

A

patient is unable to let go of a hand after shaking it

48
Q

what muscular dystrophy is associated with a child sleeping with their eyes slightly open and weakness in pursing lips

A

fascioscapulohumeral muscular dystrophy

49
Q

pathophysiology of duchenne muscular dystrophy

A

absence of dystrophin which is a cytoskeletal protein that provides structural stability to the dystroglycan complex in cell membranes

Causes necrosis of the muscle fibres and replacement of them with adipose and connective tissue.
Muscles become weaker and unusually firm

50
Q

Presentation of duchenne’s muscular dystrophy

A

usually presents around the age of 4 with clumsy walking, difficulty standing and resp failure
- imbalance of lower limb strength
- delayed motor milestones
- unusually firm muscles
- diminished muscle tone
- pseudohypertrophy
- normal sensation
- urinary or bowel incontinence
- mild to severe intellectual impairment

51
Q

What sign is common in duchenne’s muscular dystrophy

A

Gower’s sign- patient climbs up his body to stand from seated position

52
Q

how is duchenne’s muscular dystrophy diagnosed?

A

serum creatinine kinase increased
genetic testing
EMG
muscle biopsy

53
Q

first line investigation for duchenne muscular dystrophy

A

creatinine kinase

54
Q

gold standard investigation of duchenne muscular dystrophy

A

genetic testing

55
Q

What are the genetics of Klinefelter’s syndrome?

A

47XXY- it is a sex chromosome disorder where a male has an additional X chromosome

56
Q

When does Klinefelter’s often get diagnosed

A

in early adulthood- 20s to 30s as male infertility

57
Q

How common is Klinefelter’s syndrome?

A

1 in 660 men

58
Q

What type of infertility does Klinefelter’s cause?

A

hypergonadotrophic hypogonadism- there will be high LH and FSH and low testosterone

59
Q

What dose the additional X chromosome in Klinefelter’s syndrome do?

A

leads to hypoperfusion of the testes and testicular deficiency

60
Q

Presentation of Klinefelter’s syndrome

A

small firm testes
decreased facial and pubic hair
loss of libido
impotence
infertility
tall, slender with long narrow shoulders and wide hips
gynaecomastia
delayed speech development

61
Q

How is Kilnefelter’s syndrome diagnosed?

A

karyotyping
total serum testosterone- low
serum LH and FSH- raised

62
Q

How is Klinefelter’s syndrome treated ?

A

testosterone therapy and fertility counselling

63
Q

What complications are associated with Klinefelter’s asside from infertility

A

diabetes, osteoporosis, CVD, breast cancer

64
Q

Genetics of downs syndrome

A

trisomy 21

65
Q

How does downs syndrome present?

A

hypotonia
short neck
short stature
flattened face and nose
prominent epicanthic folds
upward sloping palpebral fissures
single palmar crease
Brushfeild spots on the iris
developmental delay and learning difficulty

66
Q

What different antenatal screening tests can be used to screen for Downs

A

Combined test
Triple test
Quadruple test

67
Q

When can the combined test be done?

A

between 11 and 14 weeks gestation

68
Q

What are the three components of the combined test

A
  • nuchel transluceny thickness
  • beta- HCG
  • PAPPA (pregnancy associated protein A)
69
Q

what findings of the combined test suggest Downs syndrome

A

increased nuchel tranlucency thickness
increased beta HCG
low PAPPA

70
Q

When can the triple test be done to screen for Downs

A

between 14-20 weeks

71
Q

What are the components of the triple test?

A

three blood results:
- beta-HCG
- Alpha-fetaprotein (AFP)
- serum oestriol

72
Q

what results on the triple test suggest downs syndrome

A

high beta HCG
low AFP
low oestriol

73
Q

When can the quadruple test be done

A

between 14-20 weeks

74
Q

What are the components of the quadruple test

A

beta-HCG (raised)
AFP (low)
Oestriol (low)
Inhibin A (high)

75
Q

If screening tests suggest increased risk of Downs syndrome what further antenatal test can be done

A

Amniocentesis
Chorionic villus sampling
Non-invasive prenatal testing (NIPT)

76
Q

When can chorionic villus sampling be used?

A

before 15 weeks

77
Q

What are some complications of Downs syndrome

A

cardiac defects- AV septal defect, Ventricular septal defect and ASD
Recurrent otitis emdia
Deafness
Atlantoaxial instability
Leukaemia
Respiratory problems (obstructive sleep apnoea)

78
Q

What cardiac abnormalities are associated with Downs syndrome and which is most common

A

AV septal defect (most common)
Ventricular septal defect
Atrial septal defect

79
Q

What follow up tests should patients with downs syndrome receive

A

echo
regular audiometry
regular eye checks
2 yearly thyroid checks

80
Q

Inheritance of cystic fibrosis

A

autosomal recessive

81
Q

What is the genetic defect in cystic fibrosis?

A

Mutation in the CFTR gene found on chromosome 7

82
Q

Pathophysiology of cystic fibrosis

A

The is a mutation in the CFTR anion channel which results in abnormal chloride and sodium transport and thick sticky secretions

83
Q

How might cystic fibrosis present in newborns?

A

failure to pass meconium (meconium ileus)

84
Q

How can cystic fibrosis present in infancy

A

prolonged neonatal jaundice
faltering growth
recurrent chest infections
steatorrhea

85
Q

How can cystic fibrosis present in young children

A

bronchiectasis
rectal prolapse
nasal polyps
sinusitis.

86
Q

Symptoms of cystic fibrosis (general)

A

Chronic cough and thick sputum production
steatorrhoea- due to lack of fat digesting lipases
faltering growth
Fasal polyps
recurrent respiratory infections
diabetes mellitus
jaundice
clubbing

87
Q

How is cystic fibrosis usually diagnosed ?

A

on the newborn heelprick test- immunoreactive trypsinogen test

88
Q

What test is used to diagnosed cystic fibrosis beyond neonates

A

sweat test- pilocarpine used to produce sweat and then the sweat is tested showing chloride more than 60

89
Q

What bacteria can colonise those with cystic fibrosis

A

staph aureus
haemophilus influenzae
klebsiella
e.coli
pseudomonas aeruginosa

90
Q

Why may men with cystic fibrosis suffer infertility

A

absent vas deferens

91
Q

Gold standard diagnosis of duchenne’s muscular dystrophy

A

genetic testing (now easier than muscle biopsy)

92
Q
A

3A (33 decks)

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