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MRCPCH > Genetics + Paediatric Conditions - TAS > Flashcards

Genetics + Paediatric Conditions - TAS Flashcards

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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
If an affected male gives rise to another affected male, which type of inheritance pattern is likely?
Autosomal Dominant
26
How is Down syndrome most commonly inherited?
Non-dysjunction (during the first meiotic division)
27
Deletion of the long arm of chromosome 15 (15q 11-13) maternally derived?
Angelman Syndrome
28
Deletion of the long arm of chromosome 15 (15q 11-13) - paternally derived?
Prader-Willi syndrome
29
Which conditions are an example of uniparental disomy?
Prader-Willi Syndrome + Angelman Syndrome
30
Short stature, low IQ, upslanting palpebral fissures, brushfield spots, small ears, downturned mouth, protruding tongue?
Down syndrome
31
Associated with Atlanto-axial articular laxity?
Down syndrome
32
Down syndrome is associated with which other conditions?
Atrio-Ventricular Septal Defect Congenital Hypothyroidism Oesophageal atresia + Duodenal atresia (double bubble sign on XR) Increased risk of Alzeimher disease
33
Trisomy 13 is what condition?
Patau Syndrome
34
Which condition is associated with cutis aplasia (a scalp defect over the vertex of the skull near midline seen as ulcers/ crusting)
Patau Syndrome
35
What are the features of Patau Syndrome?
Microcephaly Eyes - cataracts, colobomata, corneal opacities Cleft palate Low set ears Congenital heart disease Clinodactyl
36
What is Edward Syndrome?
Trisomy 18
37
What are the features of Edward's Syndrome?
Rockerbottom feet Overlapping Fingers Microcephaly Micrognathia Cleft palate Narrow forehead Congenital Heart defect
38
Which condition features a tall thin, long armed man with a small penis/ testes?
Klinefelter Syndrome (47 XXY)
39
Which condition can present at birth with carpal or pedal oedema with hypoplastic nails?
Turner syndrome
40
Presents with short stature, normal IQ, hearing problems (secretory otitis media), low hairline, webbed neckline, widely spaced nipples and co-arctation of the aorta?
Turner syndrome
41
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?
Fragile X Syndrome
42
What is the second most common. chromosomal abnormality after Down Syndrome?
Fragile X Syndrome
43
Which condition features blue eyes, fair hair, "happy puppet" with easily provoked paroxysms of laughter?
Angelman Syndrome
44
Associated with Salaam episodes and EEG changes showing slow wave cycles of 4-6 hz?
Angelman Syndrome
45
Presents with a cat like cry in the first few months which disappears later in life?
Cri-du-chat syndrome
46
Chromosome 5p deletion
Cri-du-chat syndrome
47
Presents with hypotonia, hypogonadism, almond shaped eyes and poor feeding initially which then develops into a food craving and pathological appetite?
Prader-Willi syndrome
48
Characterised by an elfin like face, lively cocktail party manner, supravalvular aortic stenosis?
William's Syndrome
49
Characterised by an elfin like face, lively cocktail party manner, supravalvular aortic stenosis?
William's Syndrome
50
Associated with pulmonary stenosis and presents similarly to Turners Syndrome but in boys?
Noonan Syndrome
51
Characterised by IUGR, mental retardation, smooth philtrum, thin upper lip?
Fetal Alcohol Syndrome
52
Small triangular shaped head with normal IQ, asymmetrical hemihypertrophy of the body, IUGR and hypospadias?
Russell-Silver Syndrome
53
Associated with sensorineural hearing loss and a white forelock?
Waardenburg Syndrome
54
A large proportion of babies will have exomphalos?
Beckwith Wiedemann Syndrome
55
Associated with macroglossia, macrosomia and neonatal hypoglycaemia?
Beckwith-Wiedemann Syndrome
56
Which neoplasms are Beckwith-Wiedeman Syndrome associated with?
Wilm's tumour Hepatoblastoma Renal cortisol adenoma
57
What is Alagille Syndrome?
Hypoplasia of interlobular bile ducts leading to neonatal hepatic cholestasis
58
What are the features of Alagille Syndrome?
Congenital heart disease (peripheral pulmonary stenosis) Butterfly Vertebrae Triangular thin face with prominent forehead Pruritus
59
What is Shwachman Diamond Syndrome?
Pancreatic insufficiency leading to malabsorption
60
What is the function of 5 reductase?
Converts testosterone into 5-dihydrotestosterone
61
What is the function of testosterone and 5-dihydrotestosterone?
Testosterone - male internal organ development 5-dihydrotestosterone - male external organ developemtna
62
What are the trinucleotide repeat disorders?
Friedrich's ataxia Fragile X Myotonic dystrophy type 1 &2 Spinocerebellar ataxia Spinal and bulbar muscular atrophy Huntington's disease
63
If the condition is metabolic, what is the likely inheritance?
Autosomal recessive
64
If the condition is 'structural', what is the likely inheritance?
Autosomal dominant
65
What is the trinucleotide repeat for Fragile X?
CGG
66
What is the trinucleotide repeat for Myotonic dystrophy?
CTG
67
What is the trinucleotide repeat for Huntingtons disease?
CAG
68
What is the trinucleotide repeat for Friedrich's ataxia?
GAA
69
What is the trinucleotide repeat for Spinocerebellar ataxia?
CAG
70
Which conditions are an example of imprinting?
Angelmann's syndrome Prader-Willi Beckwith-Wiedemann Syndrome Silver Russell Syndrome Albright-hereditary osteodystrophy
71
Describe anticipation?
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
Describe the term epigenetic?
Involves genetic control by factors other than the individuals DNA sequence
73
Describe the term penetrance?
The probability of a gene or genetic trait being expressed
74
What is the term heritability?
The proportion of phenotypic variance attributable to genetic variance
75
Merlin gene on chromosome 22?
Neurofibromatosis 2
76
Neurofibromin gene on chromosome 17?
Neurofibromatosis 1
77
Chromosome pairing combinations?
G-C A-T (In RNA, thymine is replaced with uracil)
78
What is the inheritance of Vitamin D resistant rickets?
X-linked dominant
79
What are the hormonal features of Klinefelter's syndrome?
Low testosterone Increased LH and FSH Normal or increased oestrogen
80
What conditions are inherited in an X-linked dominant fashion?
Alport's syndrome Rett syndrome Hypophosphataemic rickets Vitamin D resistant rickets
81
What is the name for chromosomes that have arms of roughly equal length?
Metacentric
82
What is the name If arm lengths are unequal on the chromosome?
Submetacentric
83
What is the name for chromosomes with very small P arms?
Acrocentric
84
What is the name of the analytic process used to determine the pattern of inheritance for a trait?
Segregation Analysis
85
What is the inheritance of cystic fibrosis?
Autosomal recessive
86
Southern blotting technique?
DNA
87
Northern blotting technique?
RNA
88
Western blotting technique?
Protein
89
Which inheritance pattern skips a generation?
X-linked recessive
90
What is the meaning of aneuploidy?
An abnormal number of chromosomes
91
What are the purine bases?
Adenine Guanine
92
What are the pyrimidine bases?
Cystine Thymine Uracil
93
A condition associated with posterior displacement of the tongue and a cleft palate?
Pierre-Robin syndrome
94
Cardiac anomalies in Turner syndrome?
Coarctation of the aorta Aortic dissection Bicuspid aortic valve Hypertension
95
What is a haplotype?
A set of DNA variations that tend to be inherited together
96
What is a karyotype?
An individuals collection of chromosomes
97
What are the cardiac anomalies in William's syndrome?
Supra-valvular aortic stenosis Peripheral pulmonary artery stenosis Hypertension

MRCPCH (14 decks)

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