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Foundations of Medicine > Important Conditions > Flashcards

Important Conditions Flashcards

1
Q

What is trisomy?

A

A condition in which there is an extra copy of chromosome present in the cells nuclei leading to development abnormalities

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2
Q

What is monosomy?

A

A condition in which only one chromosome from a pair is present in cells rather than the two normally found in diploid cells

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3
Q

What is Down’s Syndrome?

A

Trisomy 21

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4
Q

What are the features of Down’s Syndrome?

A

Low IQ (less than 50)
Low muscle tone
Short stature
Flat nasal bridge
Protruding tongue

Higher risk of some conditions - epilepsy,

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5
Q

What is Turner’s Syndrome?

A

Monosomy X - each cell in individuals body only has one copy of the X chromosome instead of two

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6
Q

Who does Turner’s Syndrome occur in?

A

Only in females

Affects around 1 in every 2,000 - 2,500 live female births

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7
Q

What are the features of Turner’s Syndrome?

A

May be born with swollen hands and feet due to excess fluid but will resolve after birth.

Thick neck tissue
Swelling of neck
Being a small baby
Heart conditions
Kidney abnormalities
Growth slows down after year 3

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8
Q

What is William’s Syndrome?

A

Deletion of genetic material from a specific region of chromosome 7.

Deleted region includes 25-27 genes.

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9
Q

What are the features of William’s Syndrome?

A

Wide mouth with pronounced bottom lip
Upturned nose with flattened bridge
Slightly high rounded cheeks
Irregular or widely spaced teeth
Starburst eyes
Squint

Low birth weight
Poor feeding
Sleep problems
Heart problems

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10
Q

What is alcohol fetal syndrome?

A

When a mother drinks alcohol during pregnancy, passing the alcohol in the blood to the baby via the placenta

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11
Q

Characteristics of Foetal Alcohol Spectrum Disorder

A

Movement, balance, vision and hearing problems
Learning difficulties
Difficulty managing emotions
Hyperactivity and impulsive
Difficulty communicating

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12
Q

Facial symptoms of Foetal Alcohol Syndrome

A

Small eyes
Thin upper lip
Short upturned nose
Smooth skin surface between nose and upper lip

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13
Q

What is angel-man syndrome?

A

Child not getting copy of UBE3A from mother - or it not being active

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14
Q

Characteristics of Angel-man Syndrome

A

Frequent laughing and smiling
Easily excitable
Restless
Short attention span
Trouble sleeping
Fascination of water

Tendency to stick tongue out
Crosses eyes
Paler than family members
Wide mouth and widely spaced teeth
Scoliosis
Walking with arms in the air

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15
Q

What is Edward’s Syndrome?

A

Trisomy 18

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16
Q

Features of Edward’s syndrome

A

Low birth weight
Heart, respiratory, kidney, gastrointestinal conditions

17
Q

What is Huntington’s disease?

A

An inherited condition that stops parts of the brain working properly over time

18
Q

What is the inheritance pattern of Huntingdon’s disease?

A

Autosomal dominant

19
Q

Chances of Hungtington’s Disease being passed down

A

50-50

20
Q

What are the symptoms of Huntington’s disease?

A

Difficulty concentrating
Depression
Stumbling and clumsiness
Involuntary jerking or fidgety movement to
Mood swings
Problems swallowing

21
Q

What is cystic fibrosis?

A

Inherited condition that cases sticky mucus to build up in lungs which can cause infections and problems digesting food

22
Q

What is the inheritance pattern of cystic fibrosis?

A

Autosomal recessive

23
Q

What is sickle cell disease?

A

A group of inherited diseases that cause problems in the red blood cells - the most serious is sickle cell anaemia

24
Q

What happens in sickle cell anaemia?

A

Blood is chronically low in oxygen due to the different shape in the red blood cells

25
Q

What inheritance pattern does sickle cell anaemia have?

A

Autosomal recessive

26
Q

Wha is the incidence of Downs Syndrome?

A

1 in 650 to 1 in 750

27
Q

What increases the chance of a baby having downs syndrome?

A

Increases with advancing maternal age

28
Q

What is the usual origin for Down syndrome?

A

Maternal origin

29
Q

What is trisomy 13?

A

Patau Syndrome

30
Q

What is the incidence in patau syndrome?

A

1 in 5000

31
Q

What are the features in patau syndrome?

A

Multiple dysmorphic features and mental retardation

5% die in first month, very few survive beyone first year

32
Q

What is the origin in patau syndrome?

A

Maternal origin

33
Q

What is the origin of edward’s syndrome?

A

Maternal

34
Q

What is Klinefelter syndrome?

A

47, XXY

Men are born with an extra X chromosome

35
Q

What are the features of Klinefelter syndrome?

A

Tall stature
Long limb
Infertile, small testies
Mild learning difficulties

36
Q

Give a summary of important conditions

A

Trisomy 13 - Patau Syndrome
Trisomy 18 - Edwards Syndrome
Trisomy 21 - Downs Syndrome
45, X - Turners Syndrome
47, XXY - Klienfelter Syndrome
Huntington’s Disease - Autosomal Dominant
Cystic Fibrosis - Autosomal ressive
Sickle Cell Anaemia - Autosomal ressive

Foundations of Medicine (56 decks)

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