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Paediatrics > Genetics and Syndromes > Flashcards

Genetics and Syndromes Flashcards

1
Q

How does Trisomy 21 occur?

A

Meiotic non-disjunction

  • error in meiosis where one pair of chromosomes fail to separate
  • fertilisation adds another chromosome 21 to make three
  • related to maternal age

Translocation

  • extra chromosome 21 is attached to another chromosome (14, 15, 22 or 21)
  • parents are carriers of this type

Mosaicism
- some cells are normal and some have Trisomy 21

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2
Q

What are the clinical features of Down’s syndrome?

A 
round face and flat nasal bridge
epicanthic folds
small mouth and protruding tongue
small ears
flat occiput and third fontanelle
hypotonia
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3
Q

What is Down’s syndrome associated with?

A 
Congenital heart defects - AVSD and VSD
Duodenal atresia
Hirschsprung disease
Small stature
Increased susceptibility to infection
Hearing impairments
Cataracts, squints and myopia
Increased risk of solid tumours and leukaemia
Epilepsy
Alzheimers
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4
Q

How is Down’s syndrome screened and investigated?

A

All pregnant women offered screening - biochemical markers in blood and nuchal thickening on USS
Amniocentesis of fetal chromosomal pattern
Blood is sent for FISH technique

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5
Q

How does Turner’s syndrome arise?

A

> 95% result in early miscarriage - males are incompatible with life
Antenatal USS shows fetal oedema of neck, hands, feet or cystic hygroma
Deletion of entire X chromosome, short arm etc.

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6
Q

What are the clinical features of Turner’s syndrome?

A

Shorter than average
Lack of ovary development –> infertility

Lymphoedema of hands and feet
Neck webbing
Wide spaced nipples
Coarctation of the aorta
Hypothyroidism
Renal anomalies
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7
Q

What are the long term complications and treatment of Turner’s syndrome?

A 
Heart murmur
Underactive thyroid
HTN
Osteoporosis
Scoliosis
Diabetes

Given GH and oestrogen/progesterone replacement

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8
Q

What is Duchenne’s Muscular Dystrophy and how is it inherited?

A

Affects males
X-linked recessive deletion of dystrophin protein
Dystrophin links muscle fibre to surrounding matrix

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9
Q

What are the clinical features of DMD?

A

Waddling gait +/- language delay
Selective atrophy of muscle - sternal head of pec major and brachioradialis
Pseudohypertrophy of calves
Boys are slower and more clumsy than peers
No longer ambulant by 10-14yo
Life expectancy is late teens by respiratory failure

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10
Q

How is DMD diagnosed?

A

Blood test shows elevated creatine kinase

Muscle biopsy

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11
Q

How is DMD managed?

A

Exercise to maintain muscle power, mobility and delay onset of scoliosis
Splints
Respiratory aids
Corticosteroids

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12
Q

How does Noonan syndrome present?

A

AUTOSOMAL DOMINANT

Short stature
Broad forehead
Wide eye distance
Drooping eyelids
Low-set ears
Small jaw
Webbed neck
Low hairline
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13
Q

How does Williams syndrome present?

A

DELETION of Ch 7

Elfin face
Heart defect
Very sociable

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14
Q

How does Prader-Willi syndrome present?

A

DELETION of Paternal Ch 15

Insatiable appetite –> obesity

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15
Q

How does neurofibromatosis type 1 present?

A

Autosomal dominant, 1 in 3000 births
Benign tumours of peripheral nerves

Cafe-au-lait spots
Neurofibroma
Axillary freckles
Optic glioma

Become more apparent during puberty
May cause visual or auditory impairment

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16
Q

How does neurofibromatosis type 2 present?

A

Autosomal dominant, 1 in 25,000
Causes CNS lesions

Bilateral acoustic neuromata
facial nerve paralysis

17
Q

What other conditions are neurofibromatosis associated with?

A

Multiple endocrine neoplasia syndrome
Phaeochromocytoma
Pulmonary hypertensio
Renal artery stenosis with HTN

18
Q

How does tuberous sclerosis present?

A

Dominantly inherited, 1 in 9000

Ash leaf patches which fluoresce under UV light
Facial angiofibromas
Rough patches (shagreen) over lumbar spine
Cardiac rhabdomyoma
Infantile spasms
Epilepsy
Intellectual impairment

19
Q

How does achondroplasia present?

A

Inherited autosomal dominant condition - but 50% are new mutations

Short stature from limb shortening
Large head
Frontal bossing
Lumbar lordosis
Hydrocephalus
20
Q

How does alcohol affect the fetus?

A

Facial abnormalities
IUGR
Cognitive impairment- hyperactivity, epilepsy, delirium tremens
MSK and urogenital deformities

21
Q

How does Fragile X syndrome present?

A

Developmental milestones are normal in infancy but then there are speech and language delays
Commonly autistic-like symptoms
Large, protruding ears and testes

22
Q

How does Marfan’s present?

A

Disproportionally tall and thin with long arms and legs

Skin - striae
CV - thoracic duct dilatation/rupture/dissection. AAA
Eyes - high myopia
Joints - hypermobile, arthralgia
Skeleton - pectus excavatum
23
Q

What is PKU?

A

Body is unable to break down phenylalanine which builds up in blood and brain —> learning difficulties, epilepsy, fair hair and skin
If treated early with low protein diet and avoding aspartame then there are no problems

24
Q

How does Rett’s sydrome present?

A

GIRLS
6-18 months - gross motor delay, loss of eye contact
1-4 years - decreased head circumference, loss of communication, autism like behaviours
Stationary phase
2-10 years - small improvement in social interactions and communication
>10 years - dystonia, hypertonia and Parkinsonism, no walking, breathing abnormalities

25
Q

What is Down’s syndrome?

A

Trisomy 21

26
Q

What is Patau syndrome?

A

Trisomy 13 - females

27
Q

What is Edward’s syndrome?

A

Trisomy 18 - females

28
Q

What is Turners syndrome?

A

XO

29
Q

What is Williams syndrome?

A

Chromosome 7

30
Q

What is Prader-Willi?

A

Paternal chromosome 15

31
Q

What is Angelman syndrome?

A

Maternal chromosome 15

32
Q

What is cris du chat syndrome?

A

Chromosome 5

33
Q

What is Klinefelter’s syndrome?

A

XXY

34
Q

How does Patau syndrome present?

A 
Microphthalmia
Polydactyly 
Rocker bottom feet
Kidney defects
Heart defects - VSD, PDA
35
Q

How does Edwards syndrome present?

A

Clenched hand and overlapping fingers
Small jaw, cleft lip, microcephaly
Polyhydramnios
Heart defect - VSD, ASD, PDA

Paediatrics (14 decks)

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