Genetics Flashcards

1
Q

Are there any risk factors for having a baby with Down syndrome?

A

Advancing maternal age:

  • At 20, the risk of having a baby with Down syndrome is around 1/1500
  • At 40, the risk is around 1/100
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2
Q

List the characteristic dysmorphic features of an individual with Down syndrome

A
  • Round face and flat nasal bridge
  • Small ears
  • Single palmar crease
  • ‘Sandal’ gap (wide gap between first and second toes)
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3
Q

Give some examples of complications of Down syndrome

A
  • Intellectual disability
  • Developmental delay
  • Visual and/or hearing impairments
  • Congenital heart disease, e.g. septal defects
  • Gastrointestinal abnormalities, e.g. duodenal atresia
  • Sterility in males
  • Increased risk of certain cancers, e.g. ALL
  • Increased risk of early-onset Alzheimer’s
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4
Q

Edwards syndrome is also known as…

A

Trisomy 18

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5
Q

List the characteristic dysmorphic features of an individual with Edwards syndrome

A
  • Micrognathia (small jaw)
  • Low set ears
  • Overlapping fingers
  • ‘Rocker-bottom’ feet
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6
Q

Patau syndrome is also known as…

A

Trisomy 13

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7
Q

List the characteristic dysmorphic features of a baby with Patau syndrome

A
  • Microcephaly
  • Microphthlamia (and in some cases, cyclopia)
  • Polydactyly
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8
Q

What is Turner syndrome?

A
  • Chromosomal disorder affecting females, where one of the X chromosomes is completely or partially absent
  • Can be abbreviated as 45, X
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9
Q

What are the clinical features of Turner syndrome?

A
  • Short stature
  • Neck webbing
  • Primary amenorrhoea
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10
Q

What are the potential complications of Turner syndrome?

A
  • Fertility problems
  • Congenital heart defects, e.g. bicuspid aortic valve, coarctation of the aorta
  • Renal malformations, e.g. horseshoe kidney
  • Increased risk of T2DM and hypothyroidism
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11
Q

Describe the management of Turner syndrome

A
  • Growth hormone replacement therapy in childhood
  • Sex hormone replacement therapy to promote development of secondary sexual characteristics
  • IVF can make pregnancy possible for some women
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12
Q

What is Klinefelter syndrome?

A
  • Chromosomal disorder affecting males, where they inherit an extra X chromosome
  • Can be abbreviated as 47, XXY
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13
Q

What are the clinical features of Klinefelter syndrome?

A
  • Infertility (most common presentation) and small testes
  • Gynaecomastia
  • Less muscle mass
  • Less pubic/facial hair
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14
Q

Describe the management of Klinefelter syndrome

A
  • Hormone replacement therapy

- Fertility treatment

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15
Q

What causes Fragile X syndrome?

A
  • Trinucleotide repeat expansion mutation

- X linked inheritance (affects males)

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16
Q

Describe the clinical features of Fragile X syndrome

A

Characteristic facies:

  • Long face
  • Large ears

Other features:

  • Intellectual disability
  • Developmental delay
  • Autism
  • ADHD
  • Recurrent otitis media
17
Q

What causes Prader-Willi syndrome?

A

Absence of chromosomal material from chromosome 15 (paternal origin)

18
Q

What are the clinical features of Prader-Willi syndrome?

A
  • Intellectual disability
  • Developmental delay
  • Hypotonia
  • Infancy - poor feeding and failure to thrive
  • Childhood - hyperphagia and obesity
19
Q

What causes Williams syndrome?

A

Deletion of some of the genes from chromosome 7

20
Q

What are the clinical features of Williams syndrome?

A

Characteristic facies:

  • Small, upturned nose
  • Long philtrum
  • Wide mouth, full lips

Other features:

  • Short stature
  • Learning difficulties
  • Friendly an extroverted
  • Congenital heart disease, e.g. supravalvular aortic stenosis
21
Q

What are the clinical features of Noonan syndrome?

A

Characteristic facies:

  • Widely spaced eyes with droopy eyelids
  • Short, webbed neck

Other features:

  • Short stature
  • Learning difficulties
  • Congenital heart disease, e.g. pulmonary stenosis,