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Paeds > Genetics > Flashcards

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
Q

What are the conditions associated with Noonan syndrome

A

Congenital heart disease

Undescended testes

Leaning disability

Bleeding disorders

Lymphoedema

Increased risk of leukaemia and neuroblastoma

26
Q

What is the management for Noonan syndrome

A

Supportive MDT care

May need corrective heart surgery

27
Q

What is Marfan syndrome

A

Autosomal dominant condition

Affects gene responsible for making fibrin

Have abnormal connective tissue

28
Q

What are the physical features of Marfan syndrome

A

Tall stature

Long neck

Long limbs

Long fingers

High arched palate

Hypermobility

Downward sloping palpebral fissures

29
Q

What are the conditions associated with Marfan syndrome

A

Lens dislocation in eye

Joint dislocation

Pain due to hypermobility

Scoliosis of spine

Pneumothorax

GORD

Mitral regurgitation

Aortic regurgitation

Aortic aneurysms

30
Q

What is the management for Marfan syndrome

A

Aim to minimise blood pressure and heart rate (lifestyle changes, beta blockers, ARBs)

Physiotherapy

Genetic counselling

Monitoring (ECGs, ophthalmology)

31
Q

What is fragile X syndrome

A

Mutation in a gene on X chromosome

Gene for cognitive development affected

X-linked

32
Q

What are the physical features of fragile X syndrome

A

Intellectual disability

Long, narrow face

Large ears

Large testicles after puberty

Hypermobility (especially in hands)

ADHD

Autism

Seizures

33
Q

What is the management for fragile X syndrome

A

Treat symptoms using MDT approach

Life expectancy close to normal

34
Q

What is Prader-Willi syndrome

A

Loss of function of a gene on chromosome 15

35
Q

What are the physical features of Prader-Willi syndrome

A

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
Q

What is the management for Prader-Willi syndrome

A

Carefully limit access to food (dietician support)

Growth hormone

Supportive care from MDT

37
Q

What are the physical features of Angelman syndrome

A

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
Q

What is William syndrome

A

Random deletion from chromosome 7

39
Q

What are the physical features of William syndrome

A

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
Q

What are the conditions associated with William syndrome

A

Supraclavicular aortic stenosis

ADHD

Hypertension

Hypercalcaemia

41
Q

What is the management for William syndrome

A

Supportive MDT care

Monitoring (ECHO, blood pressure)

Low calcium diet

Paeds (17 decks)

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