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Paeds BPT Written Exam > Genetics > Flashcards

Genetics Flashcards

1
Q

Gene mutation causing CHARGE syndrome

A

CHD7 gene

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2
Q

Features of Prader Willi syndrome?

A

Hyperphagia
Obesity
Short stature
Hypotonia
Hypogonadism
Mental retardation

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3
Q

Features of Angelman syndrome

A

Mental retardation
Seizures
Frequent smiling and laughing
Growth retardation

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4
Q

Genetic cause of Angelman syndrome?

A

15q12 is usually paternally imprinted (silence)
Disease when maternal copy of 15q12 is deleted (70%) paternal uniparental disomy (2%) or point mutation in the functional copy of UBE3A gene

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5
Q

Genetic cause of Prader Willi Syndrome

A

Maternal imprinting (silencing)

70% have deletion of the paternally derived 15q11-12
25% have maternal uniparental disomy

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6
Q

Pedigree rules for imprinting?

A
  • Sex of the transmitting parent will always be the same across the pedigree (eg always a transmitting male)
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7
Q

Examples of triplet repeat expansion disorders?

A

Fragile X: CGG
Myotonic dystrophy: CTG
Friedreichs Ataxia: GAA (the only recessive one)
Huntingtons: CAG

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8
Q

What is the concept of ‘anticipation’ in genetics?

A

Applies to triplet repeat expansion disorders: earlier onset in subsequent generations

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9
Q

Features of Freidreich’s Ataxia

A

Early loss of vibration sense and proprioception
Ataxia of all 4 limbs
Hypo/arreflexia
Weakness (LL then UL)
Cerebellar dysarthria

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10
Q

What 3 features may be seen with fragile X pre mutation (50-200 CGG repeats)?

A
  1. Premature ovarian failure
  2. Fragile X tremor-ataxia syndrome
  3. Neurocognitive defects later in life
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11
Q

Risk of recurrence with gonadal mosaicism?

A

Usually low risk e.g. 1-2-3%

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12
Q

Which conditions increase with consanguinity?

A

Autosomal recessive

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13
Q

Examples of X-linked dominant conditions?

A

Incontinentia pigmenti
Rett syndrome
X-linked hypophosphatemic ricks (PHEX gene)

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14
Q

Difference between incomplete penetrance and expressivity?

A

incomplete penetrance = absent phenotype (even though mutation may be present)

Variable expressivity = disorder manifesting in different ways for those affected eg tuberous sclerosis

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15
Q

rules for mitochondrial disease inheritence?

A

Both sexes affected
Transmission only by females

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16
Q

What is ‘heteroplasmy’?

A

The presence of both normal and mutation-carrying mitochondrial DNA in a cell

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17
Q

What is a non-sense mutation

A

Replacement of codon with a stop codon

18
Q

What is a mis-sense mutation

A

Mutation that results in an amino acid substitution (eg REPLACEMENT of a single nucleotide)

19
Q

What is a frameshift mutation?

A

Abnormal amino acid sequence due to insertion or deletion which causes a shift in the reading frame

20
Q

Which chromosomes are acrocentric (centromere off centre) and at risk of translocation?

A

Chromosomes 13, 14, 15, 21, 22

21
Q

What does microarray not detect?

A

Inversions
Balanced chromosome configurations and insertions

22
Q

How often does translocation occur to result in Down syndrome?

A

5% of cases are due to translocation, commonly between chromosomes 21 and 14
- problems arise at gametogenesis (not affected by maternal age) - risk of recurrence

23
Q

Most common genetic mutations in CF?

A

delF508 (~80%)
G551D (2.6%)
G542X (1.5%)
G85E (1.5%)

24
Q

Syndrome caused by Imprinting defect at 11p15/
Paternal uniparental disomy at 11p15

A

Beckwith Wiedemann

25
Q

Syndrome caused by imprinting defect at 11p15, maternal uniparental disomy at 11p15 or 7q?

A

Russell Silver Syndrome

26
Q

Features of Russel-Silver syndrome?

A

IUGR, short status, macrocephaly with triangular facies
Cafe au lait spots
clinodactytyl

27
Q

Features of stickler syndrome?

A

Cleft palate/ PRS
Myopia, cataracts, retinal holes and detachments
SNHL
Joint hypermobilitya and MSK issues
Mitral valve prolapse

28
Q

3 common features of congenital rubella syndrome?

A

Cataracts
PDA
Microcephaly

29
Q

Examples of histone acetylation defects?

A

Cornelia de lange syndrome, Kabuki Syndrome, Rubinstein-Taybi syndrome

30
Q

Examples of ribosomal trafficking defects?

A

Diamond blackfan anaemia, Schwachmann Diamond Syndrome, cartilage hair hypoplasia

31
Q

Example of telomere maintenance defect?

A

Dyskeratosis congenita

32
Q

Differences between Marfan syndrome and Loeys-Dietz syndrome?

A

In Loeys-Dietz:

  1. Bifid or broad uvula
  2. Hypertelorism
  3. Twisted arteries
  4. Aneurysms more common
33
Q

Features of 16p13.11 microduplication?

A
  • Autism
  • Behavioural issues
  • risk factor for neuropsychiatric diagnoses
  • includes MYH11 gene which is associated with increased risk of aortopathy (aneurysms, dilatation)
34
Q

Most common gene mutation in Alagille syndrome?

A

JAG 1 (89%)

NOTCH2 second most common

35
Q

Macroglossia, exomphalos, lateralised overgrowth, hyperinsulinism, risk of Wilms, ears creases and/or pits, umbilical hernia

A

Beckwith Wiedeman syndrome

36
Q

Features of Kabuki syndrome

A

CHD (70%) - usually L sided obstructive defects
Cleft lip/palate (30%)
ID/GDD
Genitourinary issues (25%)
Dysmorphism: arched eyebrows with eversion of lateral 1/2, depressed nasal tip, large cupped ears, long palpebral fissures
Joint hyper mobility

37
Q

There is risk of sudden cardiac death with anaesthesia in which condition?

A

Williams Syndrome

38
Q

Fibrillin-1 mutation (FBN1) is seen in which condition?

A

Marfan syndrome

39
Q

Most common genetic cause for trisomy 21?

A

95% are due to non-disjunction during meiosis (failure of separation of chromosome homologues)

3-4% are due to translocation (commonly 14;21)
1-2% mosaicism

40
Q

Recurrence risk for trisomy 21 caused by translocation?

A

12% if mother is carrier
1% if father is carrier
100% if 21;21 translocation

41
Q

What is the risk of leukaemia in T21?

A

1 in 300 risk of ALL or AML for children with T21 (10-20 times increased RR)

42
Q
A

Paeds BPT Written Exam (18 decks)

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