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Paediatrics > Genetic conditions > Flashcards

Genetic conditions Flashcards

1
Q

Features of tetralogy of fallot

A

ventricular septal defect (VSD)
right ventricular hypertrophy
right ventricular outflow tract obstruction, pulmonary stenosis
overriding aorta

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2
Q

What is the most common cause of cyanotic heart disease in infants

A

Tetralogy of Fallot

- typically presents at around 1-2 months (may not until 6 months old

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3
Q

What is the management of tetralogy of fallot

A

Surgical repair is often undertaken in two parts

cyanotic episodes may be helped by beta-blockers to reduce infundibular spasm

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4
Q

Clinical features of down syndrome

A

face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, protruding tongue, small low-set ears, round/flat face
flat occiput
single palmar crease, pronounced ‘sandal gap’ between big and first toe
hypotonia
congenital heart defects (40-50%, see below)
duodenal atresia
Hirschsprung’s disease

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5
Q

Cardiac complications in down syndrome

A

multiple cardiac problems may be present
endocardial cushion defect (most common, 40%, also known as atrioventricular septal canal defects)
ventricular septal defect (c. 30%)
secundum atrial septal defect (c. 10%)
tetralogy of Fallot (c. 5%)
isolated patent ductus arteriosus (c. 5%)

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6
Q

Non cardiac complications in down syndrome

A 
subfertility: males are almost always infertile due to impaired spermatogenesis. Females are usually subfertile, and have an increased incidence of problems with pregnancy and labour
learning difficulties
short stature
repeated respiratory infections (+hearing impairment from glue ear)
acute lymphoblastic leukaemia
hypothyroidism
Alzheimer's disease
atlantoaxial instability
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7
Q

What causes trisomy 21

A

3 copies pf chromosome 21

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8
Q

What is the genetic mechanism

A

maternal meiotic non-disjunction (95%)

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9
Q

What immediate health concerns must you rule out with down syndrome

A

cardiac anomalies - avsd

Bowel obstruction - duodenal atresia/hirshsprungs

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10
Q

How do you diagnose trisomy 21

A

rapid aneuploidy screen - once this confirms down syndrome, you would carry out karyotyping

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11
Q

Key features of down syndrome in neonates

A 
hypotonism
sleepy - difficult to wake for feeds
epicanthic folds
small ears
protruding tongue
excess nuchal skin
hypo-pigmented iris
pseudo strabisus (caused by epicanthic folds)
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12
Q

What is the most common cardiac anomaly in down syndrome

A

atrial ventricular septal defect
other septal and valvular defects are common
40% of down syndrome babies have a cardiac anomaly

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13
Q

What other features may be picked up on screening that are associated with trisomy 21

A

conductive and sensorineural hearing defects

hypothyroidism

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14
Q

which markers prenataly may indicate down syndrome

A

AFP - lower
unconjugated oestriol - lower
Inhibin A
human chorionic gonadotrophin - higher

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15
Q

which chromosomes does rapid aneuploidy screen (RAS) look at?

A

13, 18, 21 and sex

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16
Q

What does trisomy 13 (Patau) cause

A
  • Holoprosencephaly - no hemispheres in brain
  • orofacial clefts
  • polydactyl
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17
Q

What does Edward syndrome (18) cause

A
  • prenatal growth deficiency
  • over-riding fingers
  • congenital heart disease
18
Q

What is a robertsonian translocation

A

2 chromosomes lose their short arms and the long arms join together

19
Q

What is mosiacism

A

effected gene not present in every ceel in the body

20
Q

What is a point mutation

A

A base pair is altered. Can either be:

  • silent mutation - same amino acid
  • Missence - altered codon corresponds to a different amino acid
  • nonsense- altered codon corresponds to a stop signal
21
Q

What is fragile X

A

Mutation which prevents the development of fragile X mental retardation protein.
It affects both male and females but males tend to have more severe features

22
Q

What are the features of fragile x

A

intelectual disability
delayed motor ability
behavioural problems
toe walking

23
Q

What type of genetic condition is fragile X

A

X linked dominant CCG trinucleotide repeat

24
Q

What are 2 adult osnet disorsders associated with fragile X

A
  • fragile X tremor-ataxia syndrome (FXTAS)

- primary ovarian insufficiency (POI

25
Q

What physical features may be assoc. with fragile X

A
  • Large head, long face, prominent forehead and chin
  • protruding ears
  • loose joints
  • large teste
    these are variable and may not present until puberty
26
Q

What is Turners syndrome

A

partial or complete loss (monosomy) of one of the second sex chromosomes - 45X!
only affects female

27
Q

What are the key features of Turner

A 
short stature (<5ft)
ovarian failure
short webbed neck
Can have intelectual difficulties but not always
lymphoedema
bicuspid aortic valve
coarctation of the aorta (5-10%)
28
Q

What is Kleinfelters syndrome

A

Boy are born with an extra X chromosome - nondisconjunction (random)

29
Q

Key features of Kleinfelter

A
  • primary hypogonadism
  • small, firm testicles
  • delayed/incompelte puberty
  • breast growth
  • small stature
  • infertility
30
Q

When do you use chromosomal micro array analysis (CGH)

A

When there is no specific congenital disorder

31
Q

What is fluorescent in situ hybridisation

A

assesses specific DNA sequences so is only used when a specific disorder is suspected eg. 22q11

32
Q

What is the screening test for neuroblastoma

A

urinary HVA and VMA

33
Q

What is associated with Beckwidth weidman syndrome

A 
Ophacele
Wilms tumour
hypoglycaemia
left sided hemi-hypertrophy
large protruding tongue
34
Q

What is the surveillance for Beckwidth Weidman syndrome

A

Abdo US every 3 months until 7

35
Q

What screening do you do for Wilms tumour

A

urinary calcium/cr ratio every 6 months until 4 years

36
Q

What x ray findings would suggest dueodenal atresia

A

double bubble with no distal gas

37
Q

Features of angelmans syndrome

A 
intelectual impairment
microcephaly
seizures
jerky limb movement
generally happy demeanour
38
Q

What is the chromosomal abnormality in angelmans syndrome

A

micro deletion at 15q11.2-q13

39
Q

What is the chromosomal abnormality in Retts syndrome

A

MECP2

40
Q

What are the features of Retts syndrome

A 
intellectual impairment
seizures
hand movements (repititive/purposeless)
marked impairment of non-verbal communication
screaming fitts/inconsolable crying
41
Q

Features of smith-lemil-optiz syndrome

A

microcephaly
learning difficulties
abnormalities of digits

42
Q

What is the chromosomal abnormality in smith-lemil-optiz syndrome

A

DHCR7

Paediatrics (21 decks)

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