Genetics Flashcards

1
Q

What does Mendelian genetics mean

A

More dominant gene reflected in phenotype

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2
Q

What are deletions

A

A position of a chromosome missing

Very rare

E.g Cri du chat syndrome

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3
Q

What are duplications

A

A portion of a chromosome is duplicated

E.g Charcot-Marie-Tooth syndrome

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4
Q

What are translocations

A

Portion of one chromosome directly swapped with another

Often does not directly lead to any syndromes

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5
Q

What is trisomy

A

Having an extra chromosome

Down’s syndrome: trisomy 21

Patau syndrome: trisomy 13

Edward’s syndrome: trisomy 18

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6
Q

What is mosaicism

A

Chromosomal abnormality after conception

Happens in a portion of the cells of the body

Have different genetic material in different parts of the body

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7
Q

What is mitochondrial inheritance

A

Aka maternal inheritance

Paternal mitochondria are in tails of sperm, so do not enter egg

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8
Q

What is the genetic abnormality in Down’s syndrome

A

Trisomy 21

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9
Q

What are the physical features of Down’s syndrome

A

Hypotonia

Brachycephaly (small head with flat back)

Short neck

Short stature

Flattened face and nose

Prominent epicanthic folds (skin overlying medial portion of eye and eyelid)

Upward slope of palpable fissure (gap between upper and lower eyelid)

Single palmar crease

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10
Q

What are the complications of Down’s syndrome

A

Learning disability

Recurrent otitis media

Deafness (eustachian tube abnormality)

Visual problems (myopia, strabismus, cataracts)

Hypothyroidism

Cardiac defects

Atlantoaxial instability

Leukaemia

Dementia

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11
Q

What is the antenatal combined test for Down’s syndrome

A

Between 11 and 14 weeks

Nuchal translucency on ultrasound

Bloods (beta-HCG, PAPPA)

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12
Q

What is the antenatal triple test for Down’s syndrome

A

Between 14 and 20 weeks

Bloods (beta-HCG, AFP, serum oestriol)

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13
Q

What is the antenatal quadruple test for Down’s syndrome

A

Between 14 and 20 weeks

Bloods (beta-HCG, AFP, serum oestriol, inhibin-A)

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14
Q

What is the management for Down’s syndrome

A

Supportive care from MDT

Regular thyroid checks

ECG to diagnose cardiac defects

Regular audiometry

Regular eye checks

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15
Q

What is the genetic abnormality in Klinefelter syndrome

A

Males have extra X chromosome

47 XXY

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16
Q

What are the physical features of Klinefelter syndrome

A

Develop at puberty

Taller height

Wider hips

Gynaecomastia

Weak muscles

Small testicles

Reduced libido

Shyness

Infertility

Subtle learning difficulties

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17
Q

What is the management for Klinefelter syndrome

A

Testosterone injections

Advanced IVF techniques

Breast reduction surgery

MDT management

18
Q

What is the prognosis for Klinefelter syndrome

A

Life expectancy close to normal

Slightly increased risk of: breast cancer, osteoporosis, diabetes, anxiety, depression

19
Q

What is the genetic abnormality in Turner syndrome

A

Females with only one X chromosome

45 XO

20
Q

What are the physical features of Turner syndrome

A

Short stature

Webbed neck

High arching palate

Downward sloping of eyes with ptosis

Broad chest with widely spaced nipples

Cubitus valgus (exaggerated angle of elbows)

Underdeveloped ovaries with reduced function

Late or incomplete puberty

Mostly infertile

21
Q

What are the conditions associated with Turner syndrome

A

Recurrent otitis media

Recurrent UTIs

Coarctation of the aorta

Hypothyroidism

Hypertension

Obesity

Osteoporosis

Learning disability

22
Q

What is the management of Turner syndrome

A

Growth hormone therapy (prevent short stature)

Oestrogen and progesterone replacement (establish secondary sexual characteristics)

Fertility treatment

Monitoring for associated conditions

23
Q

What is the pattern of inheritance for Noonan syndrome

A

Autosomal dominant

24
Q

What are the physical features of Noonan syndrome

A

Short stature

Broad forehead

Downward sloping eyes and ptosis

Wide space between eyes

Prominent nasolabial folds

Low set ears

Webbed neck

Widely spaced nipples

25
What are the conditions associated with Noonan syndrome
Congenital heart disease Undescended testes Leaning disability Bleeding disorders Lymphoedema Increased risk of leukaemia and neuroblastoma
26
What is the management for Noonan syndrome
Supportive MDT care May need corrective heart surgery
27
What is Marfan syndrome
Autosomal dominant condition Affects gene responsible for making fibrin Have abnormal connective tissue
28
What are the physical features of Marfan syndrome
Tall stature Long neck Long limbs Long fingers High arched palate Hypermobility Downward sloping palpebral fissures
29
What are the conditions associated with Marfan syndrome
Lens dislocation in eye Joint dislocation Pain due to hypermobility Scoliosis of spine Pneumothorax GORD Mitral regurgitation Aortic regurgitation Aortic aneurysms
30
What is the management for Marfan syndrome
Aim to minimise blood pressure and heart rate (lifestyle changes, beta blockers, ARBs) Physiotherapy Genetic counselling Monitoring (ECGs, ophthalmology)
31
What is fragile X syndrome
Mutation in a gene on X chromosome Gene for cognitive development affected X-linked
32
What are the physical features of fragile X syndrome
Intellectual disability Long, narrow face Large ears Large testicles after puberty Hypermobility (especially in hands) ADHD Autism Seizures
33
What is the management for fragile X syndrome
Treat symptoms using MDT approach Life expectancy close to normal
34
What is Prader-Willi syndrome
Loss of function of a gene on chromosome 15
35
What are the physical features of Prader-Willi syndrome
Constant insatiable hunger Hypotonia as infant Mild-moderate learning disability Hypogonadism Fair, soft skin Prone to bruising Mental health issues (mainly anxiety) Dysmorphic features Narrow forehead Almond shaped eyes Strabismus Thin upper lip Downturned mouth
36
What is the management for Prader-Willi syndrome
Carefully limit access to food (dietician support) Growth hormone Supportive care from MDT
37
What are the physical features of Angelman syndrome
Delayed development and learning disability Severely delayed or absent speech development Coordination and balance problems Fascination with water Happy demeanour Inappropriate laughter Hand flapping Abnormal sleep pattern Epilepsy ADHD Dysmorphic features Microcephaly Fair skin, light hair, blue eyes Wide mouth, widely spaced teeth
38
What is William syndrome
Random deletion from chromosome 7
39
What are the physical features of William syndrome
Broad forehead Starburst eyes (star-like pattern on iris) Flattened nasal bridge Long philtrum Wide mouth, widely spaced teeth Small chin Very sociable, trusting personality Mild learning disability
40
What are the conditions associated with William syndrome
Supraclavicular aortic stenosis ADHD Hypertension Hypercalcaemia
41
What is the management for William syndrome
Supportive MDT care Monitoring (ECHO, blood pressure) Low calcium diet