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Paper A - Neuro > Genetics > Flashcards

Genetics Flashcards

1
Q

SHANK3 délétion syndrome

A

Autism

Gene mutation causes reduction in neuro communication

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2
Q

What is Rett’s syndrome?

A 
X-linked DOMINANT in GIRLS. MECP2 gene
Deceleration in head circumference
Learning disability
stereotyped hand movements
Psychomotor regressions
excessive somnolence/ sleep difficulties
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3
Q

What is phenylketonuria

A

metabolic disorder of autosomal recessive inheritance
mild learning difficulties and special dietary requirements
- caused by mutations of phenylalanine hydroxylase

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4
Q

What is Turner’s syndrome?

A

45X0
low hairline, retrognathism short stature, broad chest, webbed neck
Mostly due to loss of PATERNAL X chromosome - aneuploidy (80%)
10 points lower IQ than general population

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5
Q

What does presenilin-1 gene (on chromosome 14) mutations cause?

A

Early onset Alzheimers disease

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6
Q

What is prader-willi syndrome?

A

PATERNALLY inherited deletion of 15q11-13 (genomic imprinting)

  • affects boys and girls
  • obesity
  • short stature
  • small limbs
  • decreased IQ
  • hyperphagia
  • skin picking
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7
Q

What is Angelman syndrome?

A

MATERNALLY inherited deletion of 15q11-13 (genomic imprinting) “uniparental disomy, parent of origin effect”

  • developmental delay
  • low IQ
  • jerky movements especially hand-flapping
  • frequent smiling
  • seizures
  • flattened occiput, prominent jaw, wide mouth, pointed chin
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8
Q

What is DiGeorge syndrome?

A

Also called velocardiofacial syndrome

22q11. 2 autosomal dominant condition, due to deletion
- 25% chance of schizophrenia with this deletion
- mild-mod learning disability
- facial deformities: cleft palate
- absent or malformed paraythyroids -> HYPOcalcaemia
- broad nasal bridge
- articulatory speech and swallowing problems

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9
Q

What is Kallman syndrome?

A

Different inheritance patterns including X-linked recessive, AD, AR
- hypogonadotrophic hypogoadism
- anosmia
- occasional LD
a/w KISS1 mutation in small number of cases

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10
Q

What is 95% of the genetic cause of Down’s syndrome?

A

Meiotic nondisjunction of the homolygous chromosome

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11
Q

What is Edwards syndrome?

A

Trisomy 18 F>M

  • severe mental retardation
  • ROCKER bottom feet
  • low set ears
  • micrognathia (small jaw)
  • congenital heart disease
  • clenched fists
  • prominent occiput
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12
Q

What is Patau’s syndrome?

A

Trisomy 13

  • severe mental retardation
  • micropthalmia
  • microcephaly
  • CLEFT LIP/palate
  • coloboma eye
  • POLYCADACTYLY
  • congenital heart disease
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13
Q

What is William syndrome?

A

7q11 MICRODELETION

  • elfin features
  • hypercalcaemia at birth
  • supravalvular aortic stenosis
  • moderate learning disability
  • superficially fluent speech
  • hyperacusis
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14
Q

What is cri-du-chat syndrome?

A

Deletion of chromosome 5q

  • feeding problems due to difficulty swallowing and sucking
  • cat like cry
  • poorly developed facial features
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15
Q

What is tuberous sclerosis?

A

auto DOMINANT 9q34/16p13

  • adenoma sebaceum
  • normal to severe MR
  • ash leaf macules
  • brain hamartomas
  • heart and kidney cysts
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16
Q

What is Treacher Collins syndrome?

A

Auto DOMINANT 5q31
maxilla-mandibular hypoplasia
malformed pinna
down slanting palpebrae

17
Q

What is Noonan syndrome?

A

Auto DOMINANT Chr 12

  • short stature
  • nuchal oedema/ webbed neck
  • PULMONARY STENOSIS
  • cryptorchidism
18
Q

What is Lesch-Nyhan syndrome?

A

X-linked RECESSIVE Xq 26-27

  • deficiency of enzyme HGPRT
  • poor muscle control, moderate mental retardation,
  • self mutilating behaviour - lip and finger biting
  • Hyperuricaemia and hyperuricosuria -> severe gout and kidney problems
19
Q

What is fragile -X syndrome?

A

x-linked AUTOSOMAL DOMINANT!
X-linked trinucleotide expansion
frag(g)ile X- cGG expansion proximal to FMR1
causes:
- mental retardation - most common inherited cause
- most common single gene cause of Autism
- enlarged testes
- prominent ear lobes
- protracting jaw
- high pitched voice
- highly associated with anxiety/depression

20
Q

What is the inheritance of Huntingtons?

A

Autosomal dominant trinucleotide expansion at 4q13

hungtingon ChoreA - CAg

21
Q

What is the inheritance of myoTonic dysTrophy?

A

Trinucleotide expansion of cTg

22
Q

What is Klinefelter’s?

A

XXY

larger body, small testicles, bigger breasts, weaker bones, delayed puberty

23
Q

What is Cornelia de Lange syndrome?

A
  • Rare
  • lack of pregnancy associated plasma protein (PAPPA) on 9q33
  • severe profound ID and hypertrichosis

Paper A - Neuro (6 decks)

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