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Paediatrics > Genetics > Flashcards

Genetics Flashcards

1
Q

What is the genetic abnormality in Down’s?

A

Trisomy 21

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2
Q

What are features of down’s?

A 
Learning disability
Congenital heart disease
Hypothyroidism
Immunity problem
Early onset alzheimer
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3
Q

What is a congenital anomaly?

A

Anomaly present at birth - genetic and environmental

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4
Q

What can cause congenital anomalies?

A

Single gene disorders
Chromosomal disorders
Teratogens

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5
Q

How do we diagnose intellectual disability or malformation syndrome?

A

History
Description
Recognition of patterns
Testing

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6
Q

What tests can be done for intellectual disability or malformation syndrome?

A

Microarray
Targetted testing
Moving to exome/genome

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7
Q

How can dysmorphia generally be described?

A

Position and shape of facial features
Hands
Growth of child
General features

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8
Q

What are features of the head that can be abnormal?

A

Shape
Size - macro/microcephaly
Ear position - low set, posteriorly rotated indicates lack of maturity

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9
Q

What is low set ears a sign of?

A

Learning disability - ear goes up with brain while it is growing

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10
Q

What are features of eyes that can be abnormal?

A

Hypertolerism

Eyes too far apart - midline abnormality

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11
Q

What are features of hands that can be abnormal?

A

Finger length
Digital abnormalities
Palmar creases

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12
Q

What kind of fingers do marfans patients have?

A

Arachnodactyly

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13
Q

How is arachnodactyly assessed in marfans?

A

Middle finger/total hand length ratio >44%

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14
Q

What is syndactyly?

A

Fused fingers

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15
Q

What can cause polysydactly?

A

Hox D13

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16
Q

What is Acrocephalopolysyndactyly?

A

Tall forehead
Polydacyly
Sydactyly

17
Q

What is pierre robin sequence?

A

Small chin leads to cleft palatte due to tongue being forced upwards

18
Q

What is fetal akinesia sequence?

A 
Reduced fetal movement
Reduced breathing
Contractures
Clefting
Lung hypoplasia
19
Q

What is deformation?

A

Organ is there but abnormal

20
Q

What is disruption?

A

Part of organ/body part absent

21
Q

What is an association?

A

2+ features that occur together more often than would be expected by chance

22
Q

What is the VATER association anomaly?

A

Vertebral anomalies
Ano-rectal atresia
TracheooEsophageal fistula
Radial anomalies

23
Q

What is the genotype of Turners?

A

45 X0

24
Q

What are features of Turner’s syndrome?

A 
Lymphoedema - PUFFY FEET
Increased carrying angle
Low hairline
Wide spaced nipples
Short stature
occassionaly very mild learning difficulty
25
Q

What are common congenital problems in Turners?

A

Coarctation of the aorta

Hypothyroidism

26
Q

What are features of 22q11 deletion?

A 
Cleft palate
Abnormal facies
Thymic hypolplasia - immune deficiency
Calcium
Heart problems
27
Q

What are facial features of 22q11 deletion?

A

Low set eyelids
Almond shape eyes
Crumpled ear
Long nose

Paediatrics (25 decks)

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