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Child Health > Genetic Conditions > Flashcards

Genetic Conditions Flashcards

1
Q

Which chromosomal abnormality is present in Down Syndrome?

A

Trisomy 21

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2
Q

Give some clinical features of Down Syndrome which might be present at birth

A 
Flat facial profile - flat occiput, round face, flat nasal bridge
Single palmar crease
Hypotonia
Congenital heart disease (affects 30%) e.g. VSD, patent ductus arteriosus
Incurved 5th finger
'Sandal' gap between 1st and 2nd toes
Duodenal atresia
Speckled irises (Brushfield spots)
Squint
Upward slanting, almond eyes
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3
Q

What is the prevalence of Turner’s Syndrome

A

About 1 in 2500 live girls, although 95% results in early miscarriage

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4
Q

Give some clinical features of a person with Turner’s Syndrome

A 
Short stature (may be only feature)
Widely spaced, often inverted nipples
Wide chest
Congenital heart defects
Spoon-shaped nails
Webbed neck
Wide carrying angle (cubitus valgus)
Lymphoedema
Renal abnormalities
Pigmented moles
Normal intellect
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5
Q

What is meant by dysmorphology?

A

This is the description and evaluation of physical features which are frequently associated with genetic disorders

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6
Q

What is the most commonly inherited trisomy?

A

Trisomy 21 - Down Syndrome

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7
Q

What is the most common cause of the mutation in Down Syndrome?

A

Meiotic non-dysjunction: Error at meiosis causes failure of chromosome 21 to separate, so one gamete has 2 x chromosome 21 and another has none. When the gamete with two of the same chromosome fuses with a normal gamete in fertilisation, this gives rise to a zygote with trisomy 21.

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8
Q

True / False: About 95% of Turner Syndrome cases result in miscarriage

A

True

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9
Q

What are the clinical features of William Syndrome?

A
  • Congenital heart disease particularly supravalvular aortic stenosis
  • Characteristic facies: Puffy cheeks, flat nasal bridge
  • Transient neonatal hypercalcaemia in 15%
  • Mild / Moderate learning difficulties
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10
Q

Which chromosome is affected in William Syndrome?

A

Chromosome 7

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11
Q

Which chromosome is affected in Di George Syndrome?

A

Chromosome 22 (band q11 is deleted)

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12
Q

What is the inheritance pattern of neurofibromatosis?

A

Autosomal dominant

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13
Q

What is the inheritance pattern of tuberous sclerosis?

A

Autosomal dominant, although up to 70% of cases are new mutations

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14
Q

From which parent are mitochondrial disorders inherited?

A

Mother

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15
Q

What is MELAS?

A

A mitochondrial disorder:
Mitochondrial encephalitis
Lactic acidosis
Stroke-like episodes

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16
Q

What is MERRF?

A

A mitochondrial disorder:

Myoclonic epilepsy with ragged red fibres

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17
Q

What is DIDMOAD

A 
A mitochondrial disorder:
Diabetes insipidus
Diabetes mellitus
Optic atrophy
Deafness
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18
Q

What is the pattern of inheritance of tuberous sclerosis?

A

Autosomal dominant

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19
Q

What is the pattern of inheritance of neurofibromatosis?

A

Autosomal dominant

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20
Q

What is the pattern of inheritance of Fragile X syndrome?

A

X-linked

21
Q

List some features of Fragile X syndrome

A 
Moderate to severe learning difficulties
Autism
Long face
Large ears
Large testes (after puberty)
Prominent mandible
Joint laxity
Mitral valve prolapse
Scoliosis
22
Q

Which blood marker is raised in Duchenne muscular dystrophy?

A

Creatine kinase (CK)

23
Q

You are presented with a female infant with coarctation of the aorta. There is no family history but you notice a short, webbed neck and a ‘sheild-shaped’ chest. What diagnosis would you suspect?

A

Turner’s syndrome

24
Q

Supravalvular aortic stenosis is found in a 3-year-old boy with learning difficulties might lead you to suspect which genetic condition?

A

Williams syndrome

25
Q

What is the gene defect in Fragile X syndrome?

A

Expanded repeat of CGG sequence at the 5’ end of FMR-1 gene (Fragile X Mental Retardation-1) on xq27. The number of repeats increases down subsequent generations.

26
Q

What is the inheritance pattern of achondroplasia?

A

Autosomal dominant

27
Q

What is the inheritance pattern of phenylketonuria?

A

Autosomal recessive

28
Q

What is the inheritance pattern of Wilson’s disease?

A

Autosomal recessive

29
Q

What is the inheritance pattern of Duchenne and Becker muscular dystrophy?

A

X linked

30
Q

What is the inheritance pattern of glucose-6-phosphate dehydrogenase deficiency?

A

X linked

31
Q

What is the inheritance pattern of Huntington’s disease?

A

Autosomal dominant

32
Q

What is the inheritance pattern of congenital adrenal hyperplasia?

A

Autosomal recessive

33
Q

What is clinodactyly and when might you see it?

A

Incurving of a digit - seen in Down’s syndrome (incurving of the 5th finger)

34
Q

What is Trisomy 18?

A

Edward’s syndrome

35
Q

What is the chromosomal abnormality in Kleinfelter’s syndrome?

A

XXY

36
Q

What is the principle feature of Kleinfelter’s syndrome?

A

Male hypogonadism

37
Q

What is Trisomy 13?

A

Patau’s syndrome

38
Q

How do you manage Turner’s syndrome?

A

Growth hormone therapy to increase height - Somatropin

39
Q

What is the chromosomal abnormality in Turner’s syndrome?

A

Complete or partial absence of one of the X chromosomes (XO)

40
Q

What is the genetic abnormality in Duchenne muscular dystrophy?

A

Mutation in dystrophin gene on chromosome 21

41
Q

What are the clinical features of Duchenne muscular dystrophy?

A 
Usually in early childhood
Gross motor delay
'Clumsiness'
Proximal myopathy and weakness
Calf pseudohypertrophe
Progressive muscle dysfunction leading to respiratory failure
42
Q

What is Gower’s sign? When might you see it?

A

Seen in Duchenne muscular dystrophy - Ask child to sit down and then stand up…they will need to roll over and ‘climb up themselves’ in order to stand due to proximal muscle weakness

43
Q

Which is more severe…Duchenne or Becker muscular dystrophy?

A

Duchenne muscular dystrophy - presents earlier and is more severe

44
Q

How are the facial features of Williams syndrome sometimes described?

A

‘Elfin’

45
Q

List some features of Di George syndrome

A

Remember ‘CATCH 22’:
Congenital heart disease - especially ToF
Abnormal facies
Thymic dygenesis - causes T cell deficiency
Cleft palate
Hypocalcaemia

46
Q

Rocker bottom feet is a feature of which genetic condition?

A

Edward’s syndrome

47
Q

Which genetic condition has karyotype XO?

A

Turner’s

48
Q

Antenatal blood tests showing low serum alpha-fetoprotein (AFP), unconjugated oestriol and hCG, might indicate which genetic condition?

A

Edwards Syndrome (Trisomy 18)

49
Q

XXY chromosomal abnormality is which condition?

A

Kleinfelters

Child Health (13 decks)

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