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Phase 3a conditions list flashcards > Paediatric - Genetics > Flashcards

Paediatric - Genetics Flashcards

1
Q

How many chromosomes are there in the human body?

A

46 (22 pairs + 2 sex chromosomes)

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2
Q

What are males and females sex chromosomes?

A
  • Male = XY
  • Female = XX
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3
Q

What are the other 44 chromosomes called?

A

Autosomes

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4
Q

What is genotype vs phenotype?

A
  • Genotype = actual genes we have
  • Phenotype = how we express those genes in characteristics
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5
Q

What is an intron vs exon in DNA?

A
  • Intron = non-coding portion of DNA
  • Exon = coding portion of DNA
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6
Q

What is the process of creating a gamete known as?

A

Meiosis

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7
Q

Where does the child inherit the mitochondria from?

A

The mother!!!

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8
Q

What are the effects when there is a mitochondrial disease (2)?

A
  • Poor production of ATP –> myopathy (abnormal muscle function)
  • Can also cause deafness, blindness, epilepsy and diabetes
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9
Q

What is kleinfelters syndrome?

A

When a male has an extra X chromosome

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10
Q

When do features of kleinfelters usually display?

A

At puberty

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11
Q

What are the features of kleinfelters (9)?

A
  • Tall
  • Wide hips
  • Gynaecomastia
  • Weaker
  • Small testicles
  • Reduced libido
  • Shyness
  • Infertility
  • Mild learning difficulties
    basically all things feminine
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12
Q

How is kleinfelters managed (4)?

A
  • Testosterone
  • IVF
  • Breast reduction
  • MDT (physio, educational support, etc…)
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13
Q

What conditions is there a slight increased risk of for those with kleinfelters (4)?

A
  • Breast cancer
  • Osteoporosis
  • Diabetes
  • Anxiety/ depression
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14
Q

What is turners syndrome?

A

A female who has a single X chromosome

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15
Q

When does turners syndrome usually present?

A

Pubity

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16
Q

What are the 4 key features of Turners syndrome?

A
  • Short
  • Webbed neck
  • Wide nipples + wide chest
  • Primary amenorrhoea
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17
Q

What are the other features of turners syndrome (other than short, amenorrhoea, webbed neck and wide nipples) (5)?

A
  • High arch palate
  • Downward sloping eyes (-ve canthal tilt/ prey eyes) with ptosis
  • Cubitus valgus
  • Underdeveloped ovaries + infertility
  • Late puberty
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18
Q

What is cubitus valgus?

A

When elbows are extended they are angled away from the body
turners

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19
Q

What heart defects are associated with turners (2)?

A
  • Bicuspid aortic valve = MC
  • Coarcation of the aorta
    dissection of aorta is most serious long term health risk
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20
Q

What genitourinary defect is associated with turners?

A

Horseshoe kidney

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21
Q

What features upon investigation would suggest turners syndrome (2)?

A
  • Raised FSH/LH
  • Oedema in hands/ feet (antenatal USS)
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22
Q

What are the 3 most common forms of trisomy?

A
  • Downs
  • Edwards
  • Pataus
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23
Q

What trisomy is downs syndrome?

A

21

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24
Q

What trisomy is Edward’s syndrome?

A

18
W-E = 18

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25
Q

What trisomy is Patau’s

A

13
p(16) + t(20) - a(1) - a(1) - u(21) = 13

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26
Q

What are the features of downs syndrome (6)?

A
  • Upslanting palpebral fissures
  • Epicanthic folds
  • Small low set ears
  • Single palmar crease
  • Hypotonia
  • Short stature
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27
Q

What 3 conditions are children with downs syndrome commonly born with?

A
  • Duodenal atresia
  • Hirschprungs disease
  • CHD
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28
Q

What heart defects are common in those with downs syndrome (3)?

A
  • AVSD (endocardial cushion defect) = MC
  • ASD/ VSD
  • Tetralogy of fallot
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29
Q

What are 5 long term complications of downs syndrome?

A
  • Alzheimers
  • ALL
  • Infertility
  • Hypothyroid
  • Eustachian tube abnormalities + repeated U/LRTI
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30
Q

Who/ what is involved in the management of those with downs syndrome (8)?

A
  • Occupational health
  • SALT
  • Physio
  • Dietician
  • Paediatrician
  • GP
  • Opticians
  • Educational support plans
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31
Q

What are some routine follow ups for children with downs syndrome (4)?

A
  • 2 yearly thyroid checks
  • Echo (for heart defects)
  • Audiometry
  • Eye checks
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32
Q

What is the life expectancy of those with downs?

A

60 years

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33
Q

How common is down syndrome?

A

1 in 1000

34
Q

What is the prognosis/life expectancy for Edwards syndrome?

A

Most don’t live past 1 year and die in first few weeks

35
Q

What are the features of Edwards syndrome (4)?

A
  • Micrognathia (small lower jaw)
  • Low-set ears
  • Rocker bottom feet
  • Overlapping fingers
36
Q

What conditions are associated with Edwards syndrome (3)?

A
  • Congenital heart defects
  • Kidney malformation
  • GI anomalies
37
Q

How is Edwards syndrome managed?

A

Mostly supportive, palliative care once born

38
Q

How common is Edward’s syndrome?

A

1 in 5000 births

39
Q

What is the prognosis/ life expectancy of Patau’s syndrome?

A

Very poor, most die in first few weeks

40
Q

What are the features of pataus syndrome (4)?

A
  • Cleft lip
  • Microcephaly, small eyes
  • Polydactyly
  • Rocker bottom feet
41
Q

What are some complications of Patau’s (2)?

A
  • Severe congenital heart defects
  • Brain/ spinal cord malformations
42
Q

How is pataus managed?

A

Supportive/ palliative care

43
Q

How common is pataus syndrome?

A

1 in 15000

44
Q

What is the inheritance of fragile X syndrome?

A

X-linked dominant genetic condition that affects males more

45
Q

What gene is affected in fragile X syndrome?

A

FMR1 (fragile X mental retardation) gene

46
Q

What are the features of fragile X syndrome (5)?

A
  • Learning difficulties
  • Macrocephaly
  • Long face
  • Large ears
  • Macro-orchidism (large testes)
47
Q

How is fragile X managed?

A

MDT!!!

48
Q

What is angelman syndrome (chromosome and gene affected)?

A

Loss of function of the UBE3A gene on chromosome 15 inherited from the mother - 15q11-13

49
Q

Why is angelman syndrome caused by a defect in the mothers UBE3A gene not the fathers?

A

In the developing foetus the fathers UBE3A genes in the brain are inactivated

50
Q

What two situations in terms of inheritance can lead to angelman syndrome?

A
  • Deletion/ mutation in UBE3A genes on the mothers chromosome 15
  • Two male versions of chromosome 15 inherited and no copy from mother
51
Q

What are the features of angelman syndrome (8)?

A
  • Delayed development + learning difficulty
  • Severe delay/ absence of speech
  • Ataxia
  • Unusually happy
  • Microcephaly
  • Seizures
  • Wide mouth, spaced teeth
  • Fascination with water
52
Q

What is prader willi syndrome (chromosome and gene affected)?

A

Loss of function of the proximal arm of chromosome 15 inherited from the father - 15q-11-13

53
Q

What two situations in terms of inheritance can lead to prader willi syndrome?

A
  • Inheritance of two maternal chromosome 15
  • Deletion of a portion of paternal chromosome 15
54
Q

What are the features of prader willi syndrome (4)?

A
  • Constant hunger –> obesity
  • Hypotonia
  • Learning disability
  • Narrow forehead
55
Q

How is prader willi managed?

A
  • Limit food intake
  • Growth hormone - improve muscle development
56
Q

How is Noonan syndrome inherited?

A

Autosomal dominant

57
Q

What are the features of Noonan syndrome (5)?

A
  • Webbed neck
  • Wide nipples
  • Short stature
  • Pectus excavatum
  • Low set ears
58
Q

What conditions are associated with noonans (2)?

A
  • Pulomary stenosis
  • Bleeding disorders (factor XI deficiency)
59
Q

What is williams syndrome?

A

A deletion on long arm of chromosome 7 resulting in only 1 copy of the deleted genes being present (7q11-23)

60
Q

What are the features of Williams syndrome (5)?

A
  • Wide mouth, wide spaced teeth
  • Elfin facies
  • Learning disability
  • Very friendly/ sociable
  • Starburst eyes
61
Q

What conditions are associated with Williams (2)?

A
  • Supravalvular aortic stenosis (narrowing above valve)
  • Hypercalcaemia
62
Q

What are the 3 features of Pierre robin disorder?

A
  • Micrognathia
  • Glossoptosis (causing posterior displacement of the tongue)
  • Cleft pallate
63
Q

What is cystic fibrosis?

A

Autosomal recessive genetic condition affecting mucous glands

64
Q

What gene and chromosome are affected by CF?

A

CFTR (cystic fibrosis transmembrane conductance regulator) gene on chromosome 7

65
Q

What is the umbrella term for genetic conditions that cause gradual weakening and waisting of muscles?

A

Muscular dystrophy

66
Q

What is the most common form of muscular dystrophy?

A

Duchennes muscular dystrophy

67
Q

How is Duchennes muscular dystrophy inherited and the genetic defect?

A

X-linked recessive (Xp21 deletion or mutation)
mutation is beckers muscular dystrophy

68
Q

What is the mechanism by which DMD causes muscle waisting/ weakening?

A

The gene coding for dystrophin is defective. Dystrophin is a protein which holds muscles together at a cellular level.

69
Q

When does DMD usually present?

A

3-5 years

70
Q

What are the signs/ symptoms of DMD (4)?

A
  • Weakness
  • Loss of muscle mass
  • Skeletal deformities
  • Difficulty getting up
71
Q

What is a sign of DMD seen when children are trying to stand?

A

Gower’s sign
*because they can’t go anywhere**

72
Q

What is Gower’s sign?

A

Standing by walking hands up legs

73
Q

What is an example of a chromosomal deletion disorder and what chromosome is affected?

A

Cri du chat (deleted portion of chromosome 5)
‘cry like a cat’ because the child has a cat like cry as an infant

74
Q

What is an example of a duplication chromosomal disorder?

A

Charcot marie tooth (duplicated short arm of chromosome 17)

75
Q

What is an example of a translocation chromosome disorder?

A

Philadelphia chromosome translocation (between 9 and 22)
risk factor for the development of AML

76
Q

What is a robertsonian translocation?

A

When two long arms of chromosomes join together and the short arms are lost (resulting in the effective loss of 1 chromosome)

77
Q

What is mosaicism?

A

When the chromosomal abnormality happens after conception so a portion of the cells are normal and a portion have abnormal genetic material

78
Q

How is marfans syndrome often inherited?

A

Autosomal dominant

79
Q

When should the offspring of those with genetic disorders be offered testing for the disorder?

A
  • If affects management under 18 than offer in childhood
  • If does not affect management, then offer testing once in adulthood and can make an informed decision
80
Q

What is the defect seen in DiGeorge syndrome?

A

22q11.2

81
Q

What are the features of digeorge syndrome (5)?

A
  • CV Abnormality
  • Thymic hypoplasia/ absence
  • Cleft palate
  • Hypocalcaemia
  • Chromosome 22 affected
    CATCH-22

Phase 3a conditions list flashcards (31 decks)

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