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Child Health > Genetics > Flashcards

Genetics Flashcards

1
Q

What is Turner’s syndrome?

A

When a female has a single X chromosome

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2
Q

What is the genotype of someone with Turner’s syndrome?

A

45XO

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3
Q

What are the classic features of Turner’s syndrome?

A

Short stature
Webbed neck
Widely spaced nipples
Cubitus valgus - where the forearm is angled away from the body when fully extended
Late or incomplete puberty
Infertility

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4
Q

What are the complications associated with Turner’s syndrome?

A

Recurrent otitis media
Recurrent UTIs
Congenital heart defects - coarctation of aortaand biscuspid aortic valve
Hypertension
Obesity
Diabetes
Infertility

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5
Q

What investigations would you perform for Turner’s syndrome?

A

Genetic karyotyping

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6
Q

What is the management of Turner’s syndrome?

A

Growth hormone for short stature
Oestrogen and progesterone to help establish secondary sexual characteristics
Fertility treatment
Regular monitoring and managment of complications

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7
Q

What is Klinefelter’s syndrome?

A

When a male has an additional X chromosome

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8
Q

What is the genotype of someone with Klinefelter syndrome?

A

47XXY

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9
Q

When does Klinefelter syndrome present?

A

Males typically appear normal until puberty
Puberty can also be delayed

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10
Q

What are the symptoms of Klinefelter syndrome?

A

Tall and slim
Gynaecomastia
Small testicles
Weaker muscles
Shyness
Reduced libido

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11
Q

What is the management of Klinefelter syndrome?

A

Testosterone injections
IVF techniques
Breast reduction surgery
Physiotherapy, speech and language therapy, occupational therapy

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12
Q

What is cystic fibrosis?

A

A genetic condition affecting mucous glands

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13
Q

What is the inheritance pattern of CF?

A

Autosomal recessive

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14
Q

What gene is affected in CF?

A

CFTR gene (cystic fibrosis transmembrane conductance regulatory gene)

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15
Q

What is the most common mutation of the CFTR gene?

A

delta-F508

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16
Q

Which chromsome is the CFTR gene on?

A

Chromosome 7

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17
Q

What impact does CF have on the respiratory system?

A

Thick respiratory secretions due to abnormal transport of chloride ions and sodium

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18
Q

What impact does CF have on the pancreas?

A

The pancreatic duct is usually congenitally occluded resulting in pancreatic insufficiency

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19
Q

What impact does CF have on the GI system?

A

The small intestine secretes viscous mucus that can cause bowel obstruction in-utero, resulting in meconium ileus. The secretions can also cause cholestasis and neonatal jaundice

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20
Q

What impact does CF have on the reproductive tract?

A

98% of men with CF are infertile due to a congenital absence of the vas deferens

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21
Q

How many people are carriers of a CF mutation?

A

1 in 25

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22
Q

How does CF present in neonates?

A

Meconium ileus
Prolonged neonatal jaundice
Failure to thrive

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23
Q

How does CF present in infancy?

A

Failure to thrive
Recurrent infections
Pancreatic insufficiency - steatorrhoea

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24
Q

How does CF present in childhood?

A

Nasal polyps
Rectal prolapse
Sinusitis

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25
Q

How does CF present in adolescence?

A

Pancreatic insufficiency - diabetes
Chronic lung disease
Liver cirrhosis
Gallstones

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26
Q

What is the gold standard investigation for CF?

A

Sweat test

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27
Q

What results are seen in a positive sweat test?

A

High chloride level

28
Q

What test can be done in neonates to diagnose CF?

A

Newborn heelprick test

29
Q

What conditions are screened for in the newborn heelprick test?

A

Cystic fibrosis
Sickle cell anaemia
Congenital hypothyroidism
6 different metabolic conditions

30
Q

Which bacteria commonly colonise people with CF?

A

Staphylococcus aureus
Pseudomonas aeruginosa

31
Q

What other investigations can be performed to help monitor CF?

A

LFTs
CXR
Cough swab/sputum sample
Glucose tolerance test
Bone profile
Spirometry

32
Q

What are the management options for CF?

A

Patient and family education
Chest clearance and physiotherapy
Exercise
High calorie diet
CREON tablets for pancreatic insufficiency
Antibiotics for chest infections
Bronchodilators
Prophylactic flucloxacillin

33
Q

What is Patau’s syndrome?

A

Trisomy 13

34
Q

What is Edward’s syndrome?

A

Trisomy 18

35
Q

What is the management of Turner Syndrome?

A

Growth hormone
Oestrogen and progesterone to establish secondary female sexual characterstics
Fertility treatment

36
Q

What are the associations of Klinefelter’s?

A

Diabetes
Anxiety
Increased risk of breast cancer
Osteoporosis

37
Q

What is noonan syndrome?

A

A genetic disorder with a wide range of features across the body

38
Q

What is the inheritance pattern of noonan syndrome?

A

Autosomal dominant

39
Q

What is the presentation of noonan syndrome?

A

Short stature
Broad forehead
Wide space between eyes - hypertelorism
Downward sloping eyes with ptosis
Prominent nasolabial folds

40
Q

What conditions are associated with noonan syndrome?

A

Congenital heart disease - pulmonary valve stenosis, hypertrophic cardiomyopathy, ASD
Undescended testes
Learning disability
Bleeding disorders
Lymphodema
Increased risk of leukaemia and neuroblastoma

41
Q

What is the management of noonan syndrome?

A

Supportive
Surgery for congenital heart disease

42
Q

What is fragile X syndrome?

A

A genetic condition that causes a range of developmental problems

43
Q

What is the inheritance pattern of fragile X syndrome?

A

X linked (unclear if dominant or recessive)

44
Q

What is the presentation of fragile X syndrome?

A

Intellectual disability
Long, narrow face
Large ears
Large testicles post puberty
Social anxiety
ADHD and autisum

45
Q

What mutation causes fragile X syndrome?

A

CGG trinucleotide repeat in the FMR1 gene

46
Q

What is Prader Willi syndrome?

A

A genetic condition caused by loss of functionality of the proximal arm of chromsome 15

47
Q

What are the modes of inheritance of Prader Willi syndrome?

A

Deletion of the proximal arm
Inheritance of two copies of from mother

48
Q

What is the presentation of Prader Willi syndrome?

A

Constant insatiable hunger
Hypotonia as an infant
Learning disability
Developmental delay in early childhood
Mental health problems
Short stature

49
Q

What is the definitive diagnosis for Prader-Willi syndrome?

A

Genetic testing

50
Q

What is the management of Prader-Willi syndrome?

A

Growth hormone
Dieticians - management of overeating
Education support
PTOT

51
Q

What is Angelman syndrome?

A

A genetic condition caused by a loss of function of the UBE3A gene

52
Q

What is the mode of inheritance of Angelman syndrome?

A

Deletion on mother’s chromosome 15
Inheritance of two copies of gene from father

53
Q

What is the presentation of Angelman syndrome?

A

Delayed development - especially speech development
Happy demeanour
Fascination with water
Ataxia
ADHD
Epilepsy
Dysmorphic features
Fair skin, light hair and blue eyes
Widely space teeth

54
Q

What is the management of Angelman syndrome?

A

PTOT
Psychological support
Social services
Educational support
Anti-epileptics

55
Q

What are the features of Patau’s syndrome?

A

Holoprosencephaly - failure of the two cerebral hemispheres to divide
Cleft lip and palate
Microcephaly
Polydactyly
Congenital heart disease

56
Q

What are the features of Edwards syndrome?

A

Low set ears
Small jaw (micrognathia)
Overlapping 4th and 5th fingers
Rocked bottomed feet
Congenital heart disease

57
Q

What is Williams syndrome?

A

A deletion on chromosome 7 that results in having only one copy of the genes from this region

58
Q

How does Williams syndrome occur?

A

A random deletion around the time of conception

59
Q

What are the features of Williams syndrome?

A

Broad forehead
Starburst eyes (star like pattern on the iris)
Flattened nasal bridge
Long philtrum
Wide mouth and widely spaced teeth
Mild learning disability
Socialable and trusting personality

60
Q

What conditions are associated with Williams syndrome?

A

Supravalvular aortic stenosis
ADHD
Hypertension
Hypercalcaemia

61
Q

What is the management of Williams sydrome?

A

MDT approach
Low calcium diet
Echocardiograms and BP monitoring (for hypertension and stenosis)

62
Q

What is Kallmann’s syndrome?

A

An X-linked recessive condition that delays puberty due to hypogonadotrophic hypogonadism

63
Q

Why does Kallman’s syndrome cause delayed puberty?

A

It is thought to be due to a failure of GnRH secreting neurons migrating to the hypothalamus

64
Q

What is the presentation of Kallman syndrome?

A

Anosmia
Delayed puberty
Hypogonadism
Normal or above average height

65
Q

What hormone levels are seen in Kallman syndrome?

A

Low testosterone levels
LH and FSH levels low

66
Q

What medications can specifically be used to treat the most common CF mutation?

A

Lumacaftor/ivacaftor

67
Q

What are the functions of lumacaftor and ivacaftor?

A

Lumacaftor helps the CFTR protein form and move to the surface
Ivacaftor helps the CFTR protein to stay open for longer

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