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MRCPCH > Genetics + Paediatric Conditions - TAS > Flashcards

Genetics + Paediatric Conditions - TAS Flashcards

1
Q

If the Trisomy 21 = ??

A

Down’s syndrome

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2
Q

Most commonly associated with cutis aplasia (the failure of skin to form over one part of the skull?)

A

Patau Syndrome (trisomy 13)

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3
Q

Infantile spasms are a classical presentation of ??

A

Tuberous Sclerosis

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4
Q

Major criteria of Tuberous Sclerosis?

A

Ash leaf macules
Angiofibromas
Shagreen Patch
Multiple renal hamartomas
Subependymal nodules
Subependymal giant cell astrocytomas
Cardiac Rhabdomyomas
Ungal fibromas

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5
Q

A rare inherited form of aplastic anaemia?

A

Fanconi’s Anaemia

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6
Q

Usually presents between the age of 3 and 12, initially presents with tiredness and lethargy, other features include short stature, aplasia of the radius, small head size, discolouration of the skin, learning difficulties and low birth weight?

A

Fanconi’s Anaemia

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7
Q

Features of Fanconi’s Anaemia?

A

Tired and lethargy
Pancytopenia (it is another form of aplastic anaemia)
Aplasia of the radius
Short stature
Small head
Learning difficulties

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8
Q

Fanconi’s Anaemia is confirmed by which test?

A

Chromosomal Breakage Test

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9
Q

25% of patients have a missing kidney or a horseshoe kidney?

A

Fanconi’s Anaemia

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10
Q

What are the features of Fabry Disease?

A

Febrile episodes (worse in hot weather)
Alpha-galactosidase deficiency
Burning pain (peripheral neuropathy)
Renal impairment
Y chromosomes affected/ youth death
Cardiovascular disease (MI +/- strokes)

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11
Q

Which antibody crosses into the placenta?

A

IgG

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12
Q

As a general rule, which type of organisms are children with antibody deficiencies pre-disposed to?

A

Encapsulated organisms e.g. H. influenzae, Staph. aureus and strep. pneumonie

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13
Q

Immunodeficiency, thrombocytopenia and severe eczema?

A

Wiskott-Aldrich Syndrome

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14
Q

Immunodeficiency disease with raised IgG and IgE and low IgA

A

Wiskott-Aldrich syndrome

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15
Q

What are the features of CHARGE syndrome?

A

Coloboma
Heart defect
Atresia choanae
Retardation of growth
Genital abnormalities
Ear abnormalities

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16
Q

Which conditions do you see butterfly vertebrae in?

A

Alagille Syndrome
VACTERL

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17
Q

What is Holt-Oram Syndrome?

A

aka atrio-digital syndrome

Typically presents with ASDs associated with radial ray anomalies

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18
Q

Genetic condition associated most commonly with supravalvular aortic stenosis?

A

William’s Syndrome

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19
Q

Which cardiac conditions are DiGeorge Syndrome most associated with?

A

Tetralogy of Fallot
Truncus Arteriosus

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20
Q

Chubby rosy cheeks, friable kinky colourless hair w/ low copper?

A

Menke’s Disease

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21
Q

What does WAGR syndrome consist of?

A

Wilm’s Tumour
Aniridia
Genitourinary Malformations
Retardation of Development

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22
Q

If the ratio of males to females is 1:1 - what is the likely inheritance pattern?

A

Autosomal Dominant or Autosomal recessive

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23
Q

If females are affected more commonly than males, which inheritance pattern is likely?

A

X-linked dominant inheritance

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24
Q

If no females are affected, think which type of inheritance pattern?

A

X-linked recessive

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25
Q

If an affected male gives rise to another affected male, which type of inheritance pattern is likely?

A

Autosomal Dominant

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26
Q

How is Down syndrome most commonly inherited?

A

Non-dysjunction (during the first meiotic division)

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27
Q

Deletion of the long arm of chromosome 15 (15q 11-13) maternally derived?

A

Angelman Syndrome

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28
Q

Deletion of the long arm of chromosome 15 (15q 11-13) - paternally derived?

A

Prader-Willi syndrome

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29
Q

Which conditions are an example of uniparental disomy?

A

Prader-Willi Syndrome + Angelman Syndrome

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30
Q

Short stature, low IQ, upslanting palpebral fissures, brushfield spots, small ears, downturned mouth, protruding tongue?

A

Down syndrome

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31
Q

Associated with Atlanto-axial articular laxity?

A

Down syndrome

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32
Q

Down syndrome is associated with which other conditions?

A

Atrio-Ventricular Septal Defect
Congenital Hypothyroidism
Oesophageal atresia + Duodenal atresia (double bubble sign on XR)
Increased risk of Alzeimher disease

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33
Q

Trisomy 13 is what condition?

A

Patau Syndrome

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34
Q

Which condition is associated with cutis aplasia (a scalp defect over the vertex of the skull near midline seen as ulcers/ crusting)

A

Patau Syndrome

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35
Q

What are the features of Patau Syndrome?

A

Microcephaly
Eyes - cataracts, colobomata, corneal opacities
Cleft palate
Low set ears
Congenital heart disease
Clinodactyl

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36
Q

What is Edward Syndrome?

A

Trisomy 18

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37
Q

What are the features of Edward’s Syndrome?

A

Rockerbottom feet
Overlapping Fingers
Microcephaly
Micrognathia
Cleft palate
Narrow forehead
Congenital Heart defect

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38
Q

Which condition features a tall thin, long armed man with a small penis/ testes?

A

Klinefelter Syndrome (47 XXY)

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39
Q

Which condition can present at birth with carpal or pedal oedema with hypoplastic nails?

A

Turner syndrome

40
Q

Presents with short stature, normal IQ, hearing problems (secretory otitis media), low hairline, webbed neckline, widely spaced nipples and co-arctation of the aorta?

A

Turner syndrome

41
Q

Which condition presents around the time of puberty with large ears, large head, large jaw, hyperextensibility of the wrist joints, flat feet and mitral valve prolapse?

A

Fragile X Syndrome

42
Q

What is the second most common. chromosomal abnormality after Down Syndrome?

A

Fragile X Syndrome

43
Q

Which condition features blue eyes, fair hair, “happy puppet” with easily provoked paroxysms of laughter?

A

Angelman Syndrome

44
Q

Associated with Salaam episodes and EEG changes showing slow wave cycles of 4-6 hz?

A

Angelman Syndrome

45
Q

Presents with a cat like cry in the first few months which disappears later in life?

A

Cri-du-chat syndrome

46
Q

Chromosome 5p deletion

A

Cri-du-chat syndrome

47
Q

Presents with hypotonia, hypogonadism, almond shaped eyes and poor feeding initially which then develops into a food craving and pathological appetite?

A

Prader-Willi syndrome

48
Q

Characterised by an elfin like face, lively cocktail party manner, supravalvular aortic stenosis?

A

William’s Syndrome

49
Q

Characterised by an elfin like face, lively cocktail party manner, supravalvular aortic stenosis?

A

William’s Syndrome

50
Q

Associated with pulmonary stenosis and presents similarly to Turners Syndrome but in boys?

A

Noonan Syndrome

51
Q

Characterised by IUGR, mental retardation, smooth philtrum, thin upper lip?

A

Fetal Alcohol Syndrome

52
Q

Small triangular shaped head with normal IQ, asymmetrical hemihypertrophy of the body, IUGR and hypospadias?

A

Russell-Silver Syndrome

53
Q

Associated with sensorineural hearing loss and a white forelock?

A

Waardenburg Syndrome

54
Q

A large proportion of babies will have exomphalos?

A

Beckwith Wiedemann Syndrome

55
Q

Associated with macroglossia, macrosomia and neonatal hypoglycaemia?

A

Beckwith-Wiedemann Syndrome

56
Q

Which neoplasms are Beckwith-Wiedeman Syndrome associated with?

A

Wilm’s tumour
Hepatoblastoma
Renal cortisol adenoma

57
Q

What is Alagille Syndrome?

A

Hypoplasia of interlobular bile ducts leading to neonatal hepatic cholestasis

58
Q

What are the features of Alagille Syndrome?

A

Congenital heart disease (peripheral pulmonary stenosis)
Butterfly Vertebrae
Triangular thin face with prominent forehead
Pruritus

59
Q

What is Shwachman Diamond Syndrome?

A

Pancreatic insufficiency leading to malabsorption

60
Q

What is the function of 5 reductase?

A

Converts testosterone into 5-dihydrotestosterone

61
Q

What is the function of testosterone and 5-dihydrotestosterone?

A

Testosterone - male internal organ development
5-dihydrotestosterone - male external organ developemtna

62
Q

What are the trinucleotide repeat disorders?

A

Friedrich’s ataxia
Fragile X
Myotonic dystrophy type 1 &2
Spinocerebellar ataxia
Spinal and bulbar muscular atrophy
Huntington’s disease

63
Q

If the condition is metabolic, what is the likely inheritance?

A

Autosomal recessive

64
Q

If the condition is ‘structural’, what is the likely inheritance?

A

Autosomal dominant

65
Q

What is the trinucleotide repeat for Fragile X?

A

CGG

66
Q

What is the trinucleotide repeat for Myotonic dystrophy?

A

CTG

67
Q

What is the trinucleotide repeat for Huntingtons disease?

A

CAG

68
Q

What is the trinucleotide repeat for Friedrich’s ataxia?

A

GAA

69
Q

What is the trinucleotide repeat for Spinocerebellar ataxia?

A

CAG

70
Q

Which conditions are an example of imprinting?

A

Angelmann’s syndrome
Prader-Willi
Beckwith-Wiedemann Syndrome
Silver Russell Syndrome
Albright-hereditary osteodystrophy

71
Q

Describe anticipation?

A

A phenomenon whereby the symptoms of a genetic disorder become apparent at an earlier stage as it is passed on to the next generation

72
Q

Describe the term epigenetic?

A

Involves genetic control by factors other than the individuals DNA sequence

73
Q

Describe the term penetrance?

A

The probability of a gene or genetic trait being expressed

74
Q

What is the term heritability?

A

The proportion of phenotypic variance attributable to genetic variance

75
Q

Merlin gene on chromosome 22?

A

Neurofibromatosis 2

76
Q

Neurofibromin gene on chromosome 17?

A

Neurofibromatosis 1

77
Q

Chromosome pairing combinations?

A

G-C
A-T

(In RNA, thymine is replaced with uracil)

78
Q

What is the inheritance of Vitamin D resistant rickets?

A

X-linked dominant

79
Q

What are the hormonal features of Klinefelter’s syndrome?

A

Low testosterone
Increased LH and FSH
Normal or increased oestrogen

80
Q

What conditions are inherited in an X-linked dominant fashion?

A

Alport’s syndrome
Rett syndrome
Hypophosphataemic rickets
Vitamin D resistant rickets

81
Q

What is the name for chromosomes that have arms of roughly equal length?

A

Metacentric

82
Q

What is the name If arm lengths are unequal on the chromosome?

A

Submetacentric

83
Q

What is the name for chromosomes with very small P arms?

A

Acrocentric

84
Q

What is the name of the analytic process used to determine the pattern of inheritance for a trait?

A

Segregation Analysis

85
Q

What is the inheritance of cystic fibrosis?

A

Autosomal recessive

86
Q

Southern blotting technique?

A

DNA

87
Q

Northern blotting technique?

A

RNA

88
Q

Western blotting technique?

A

Protein

89
Q

Which inheritance pattern skips a generation?

A

X-linked recessive

90
Q

What is the meaning of aneuploidy?

A

An abnormal number of chromosomes

91
Q

What are the purine bases?

A

Adenine
Guanine

92
Q

What are the pyrimidine bases?

A

Cystine
Thymine
Uracil

93
Q

A condition associated with posterior displacement of the tongue and a cleft palate?

A

Pierre-Robin syndrome

94
Q

Cardiac anomalies in Turner syndrome?

A

Coarctation of the aorta
Aortic dissection
Bicuspid aortic valve
Hypertension

95
Q

What is a haplotype?

A

A set of DNA variations that tend to be inherited together

96
Q

What is a karyotype?

A

An individuals collection of chromosomes

97
Q

What are the cardiac anomalies in William’s syndrome?

A

Supra-valvular aortic stenosis
Peripheral pulmonary artery stenosis
Hypertension

MRCPCH (14 decks)

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