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Genetics Flashcards

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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
How does CF present in adolescence?
Pancreatic insufficiency - diabetes Chronic lung disease Liver cirrhosis Gallstones
26
What is the gold standard investigation for CF?
Sweat test
27
What results are seen in a positive sweat test?
High chloride level
28
What test can be done in neonates to diagnose CF?
Newborn heelprick test
29
What conditions are screened for in the newborn heelprick test?
Cystic fibrosis Sickle cell anaemia Congenital hypothyroidism 6 different metabolic conditions
30
Which bacteria commonly colonise people with CF?
Staphylococcus aureus Pseudomonas aeruginosa
31
What other investigations can be performed to help monitor CF?
LFTs CXR Cough swab/sputum sample Glucose tolerance test Bone profile Spirometry
32
What are the management options for CF?
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
What is Patau's syndrome?
Trisomy 13
34
What is Edward's syndrome?
Trisomy 18
35
What is the management of Turner Syndrome?
Growth hormone Oestrogen and progesterone to establish secondary female sexual characterstics Fertility treatment
36
What are the associations of Klinefelter's?
Diabetes Anxiety Increased risk of breast cancer Osteoporosis
37
What is noonan syndrome?
A genetic disorder with a wide range of features across the body
38
What is the inheritance pattern of noonan syndrome?
Autosomal dominant
39
What is the presentation of noonan syndrome?
Short stature Broad forehead Wide space between eyes - hypertelorism Downward sloping eyes with ptosis Prominent nasolabial folds
40
What conditions are associated with noonan syndrome?
Congenital heart disease - pulmonary valve stenosis, hypertrophic cardiomyopathy, ASD Undescended testes Learning disability Bleeding disorders Lymphodema Increased risk of leukaemia and neuroblastoma
41
What is the management of noonan syndrome?
Supportive Surgery for congenital heart disease
42
What is fragile X syndrome?
A genetic condition that causes a range of developmental problems
43
What is the inheritance pattern of fragile X syndrome?
X linked (unclear if dominant or recessive)
44
What is the presentation of fragile X syndrome?
Intellectual disability Long, narrow face Large ears Large testicles post puberty Social anxiety ADHD and autisum
45
What mutation causes fragile X syndrome?
CGG trinucleotide repeat in the FMR1 gene
46
What is Prader Willi syndrome?
A genetic condition caused by loss of functionality of the proximal arm of chromsome 15
47
What are the modes of inheritance of Prader Willi syndrome?
Deletion of the proximal arm Inheritance of two copies of from mother
48
What is the presentation of Prader Willi syndrome?
Constant insatiable hunger Hypotonia as an infant Learning disability Developmental delay in early childhood Mental health problems Short stature
49
What is the definitive diagnosis for Prader-Willi syndrome?
Genetic testing
50
What is the management of Prader-Willi syndrome?
Growth hormone Dieticians - management of overeating Education support PTOT
51
What is Angelman syndrome?
A genetic condition caused by a loss of function of the UBE3A gene
52
What is the mode of inheritance of Angelman syndrome?
Deletion on mother's chromosome 15 Inheritance of two copies of gene from father
53
What is the presentation of Angelman syndrome?
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
What is the management of Angelman syndrome?
PTOT Psychological support Social services Educational support Anti-epileptics
55
What are the features of Patau's syndrome?
Holoprosencephaly - failure of the two cerebral hemispheres to divide Cleft lip and palate Microcephaly Polydactyly Congenital heart disease
56
What are the features of Edwards syndrome?
Low set ears Small jaw (micrognathia) Overlapping 4th and 5th fingers Rocked bottomed feet Congenital heart disease
57
What is Williams syndrome?
A deletion on chromosome 7 that results in having only one copy of the genes from this region
58
How does Williams syndrome occur?
A random deletion around the time of conception
59
What are the features of Williams syndrome?
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
What conditions are associated with Williams syndrome?
Supravalvular aortic stenosis ADHD Hypertension Hypercalcaemia
61
What is the management of Williams sydrome?
MDT approach Low calcium diet Echocardiograms and BP monitoring (for hypertension and stenosis)
62
What is Kallmann's syndrome?
An X-linked recessive condition that delays puberty due to hypogonadotrophic hypogonadism
63
Why does Kallman's syndrome cause delayed puberty?
It is thought to be due to a failure of GnRH secreting neurons migrating to the hypothalamus
64
What is the presentation of Kallman syndrome?
Anosmia Delayed puberty Hypogonadism Normal or above average height
65
What hormone levels are seen in Kallman syndrome?
Low testosterone levels LH and FSH levels low
66
What medications can specifically be used to treat the most common CF mutation?
Lumacaftor/ivacaftor
67
What are the functions of lumacaftor and ivacaftor?
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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