Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Year Three - Specialities > Genetics - Genetic Disorders > Flashcards

Genetics - Genetic Disorders Flashcards

1
Q

What is Down’s syndrome?

A

It is a genetic disorder caused by the presence a copy of chromosome 21 (trisomy 21)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are the three main mechanisms of Down’s syndrome?

A

Maternal nondisjunction

Robertsonian translation

Mocaicism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the most common mechanism of Down’s syndrome?

A

Maternal nondisjunction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What are the eight clinical features of Down’s syndrome?

A

Facial abnormalities

Flat occiput

Single palmar crease

Pronounced sandal gap

Hypotonia

Congenital heart defects

Duodenal artersia

Hirschprung’s disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What six facial abnormalities are associated with Down’s?

A

Upslanting palpebral fissures

Epicanthic folds

Brushfield spots in iris

Protruding tongue

Small low-set ears

Round/flat face

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What five cardiac abnormalities are associated with Down’s syndrome?

A

Endocardial cushion defect

Ventricular septal defect

Secundum atrial septal defect

Tetralogy of Fallot

Isolated patent ductus arteriosus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is the most common cardiac abnormalities in Down’s syndrome?

A

Endocardial cushion defect

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are the eight later complications of Down’s syndrome?

A

Subfertility

Learning difficulties

Short stature

Respiratory infections

ALL

Hypothyroidism

Alzheimer’s disease

Atlantoaxial instability

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is the first line investigation used to screen for Down’s syndrome?

A

Combined test

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is the combined test?

A

Nuchal translucency measurement

Serum B-hCG levels

Pregnancy associated plasma protein A (PAPP-A)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

When is the combined test conducted?

A

11 - 13+6 weeks

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What combined test result indicates Down’s syndrome?

A

Thickened nuchal translucency

Increased b-hCG

Decreased PAPPA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What two other tests are used to screen for Down’s syndrome between 15-20 weeks?

A

Triple test

Quadruple test

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the triple test?

A

Alpha-fetoprotein

Unconjugated estriol

b-hCG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is the quadruple test?

A

Alpha-fetoprotein

Unconjugated estriol

b-hCG

Inhibin A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is Patau’s syndrome?

A

It is a genetic disorder caused by the presence a copy of chromosome 13 (trisomy 13)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What are the five clinical features of Patau syndrome?

A

Microcephalic

Small eyes

Cleft lip/palate

Polydactyly

Scalp lesions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What is Edward’s syndrome?

A

It is a genetic disorder caused by the presence a copy of chromosome 18 (trisomy 18)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What are the four clinical features of Edward’s syndrome?

A

Micrognathia

Low-set ears

Rocker bottom feet

Overlapping of fingers

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is Turner’s syndrome?

A

It is caused by either the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What phenotype denotes Turner’s syndrome?

A

45,XO

OR

45,X

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What is the most common mechanism of Turner’s syndrome?

A

Mosaicism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What is mosaicism?

A

It is defined as the presence of two genetically different populations of cells in the body

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What are the twelve clinical features of Turner’s syndrome?

A

Short stature

Widely spaced nipples

Webbed neck

Cardiac abnormalities

Primary amenorrhoea

Cystic hygroma

High arched palate

Short forth metacarpal

Multiple pigmented naevei

Lymphoedmea

Hypothyroidism

Renal abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What two cardiac abnormalities are associated with Turner’s syndrome?

A

Bicuspid aortic valve

Coarctation of the aorta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What renal abnormality is associated with Turner’s syndrome?

A

Horshoe kidney

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What is Klinfelter’s syndrome?

A

It is a genetic condition that results when a boy is born with an extra copy of the X chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What phenotype denotes Klinfelter’s syndrome?

A

47, XXY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What are the five clinical features associated with Klinfelter’s syndrome?

A

Tall

Lack of secondary sexual characteristics

Small, firm testes

Infertile

Gynaecomastia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What genetic test is used to diagnose Klinefelter’s syndrome?

A

Karyotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What blood test is used to indicate Klinefelter’s syndrome?

A

Increased gonadotropin levels

Low testosterone levels

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What is Noonan’s syndrome?

A

It is a genetic condition associated with a PTPN11 mutation on chromosome 12

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What inheritance is demonstrated in Noonan’s syndrome?

A

Autosomal dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What are the four clinical features of Noonan’s syndrome?

A

Webbed neck

Pectus excavatum

Short stature

Pulmonary stenosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

What is William’s syndrome?

A

It is an inherited neurodevelopmental disorder caused by a microdeletion on chromosome 7

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

What are the six clinical features of William’s syndrome?

A

Ellfin-like facies

Friendly character

Learning difficulties

Short stature

Transient neonatal hypercalcaemia

Supravalvular aortic stenosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

How do we diagnose William’s syndrome?

A

FISH study

38
Q

What is DiGeorge syndrome?

A

It is a primary T-cell immunodeficiency disorder

39
Q

What is the cause of DiGeorge syndrome?

A

A deletion of a section of chromosome 22

40
Q

What are two other names for DiGeorge syndrome?

A

Velocardiofacial syndrome

22q11.2 deletion syndrome

41
Q

What is the inheritance of DiGeorge syndrome?

A

Autosomal dominant

42
Q

What are the six clinical features of DiGeorge syndrome?

A

CATCH

Cardiac abnormalities

Abnormal facies

Thymic aplasia

Cleft palate

Hypocalcaemia/ hypoparathyroidism

43
Q

What is Marfan’s syndrome?

A

It is a genetic connective tissue disorder

It is caused by a defect in the FBN1 gene on chromosome 15 that codes for the protein fibrillin-1

44
Q

What inheritance is demonstrated in Marfan’s syndrome?

A

Autosomal dominant

45
Q

What are the ten clinical features of Marfan’s syndrome?

A

Tall stature

High-arched palate

Arachnodactyly

Pectus excavatum

Pes planus

Scoliosis

Cardiac abnormalities

Pneumothoraces

Eye abnormalities

Dural ectasia

46
Q

What four cardiac abnormalities are associated with Marfan’s syndrome?

A

Dilation of the aortic sinuses

Aortic dissection

Aortic regurgitation

Mitral valve prolapse

47
Q

What are the three eye abnormalities associated with Marfan’s syndrome?

A

Upwards lens dislocation

Blue sclera

Myopia

48
Q

What is dural ectasia?

A

It is ballooning of the dural sac at the lumbosacral level

49
Q

What scan do we conduct annually in Marfan’s syndrome patients?

A

ECHO scan

50
Q

What two drugs are used to manage Marfan’s syndrome?

A

Beta-blockers

ARBs

51
Q

What is phenylketonuria (PKU)?

A

It is a genetic condition caused by a disorder of phenylalanine metabolism

This is usually due to defect in phenylalanine hydroxylase, an enzyme which converts phenylalanine to tyrosine

This leads to an accumulation of phenylalanine

52
Q

What type of inheritance is PKU?

A

Autosomal recessive

53
Q

On what chromosome is phenylalanine hydroxylase located on?

A

12

54
Q

When does PKU tend to present?

A

6 months

55
Q

What are the five clinical features of PKU?

A

Developmental delay

Seizures

Learning disabilities

Eczema

Musty odour to urine and sweat

56
Q

What test is used to diagnose PKU?

A

Guthrie test, also known as the heel prick test

57
Q

When is the Guthrie test conducted?

A

5-9 days after birth

58
Q

What blood result indicates PKU?

A

Hyperphenylalaninaemia

59
Q

What urine result indicates PKU?

A

Phenylpyruvic acid

60
Q

How do we manage PKU?

A

We advise dietary restrictions during pregnancy and after birth

61
Q

What is pleiotropy? Name an example

A

It refers to a mutation in a single gene causing pathology in multiple organ systems

PKU

62
Q

What is Prader Willi syndrome?

A

It is a genetic condition associated with the absence of the active Prader-Willi gene on the long arm of chromosome 15

63
Q

What are the two pathophysiological causes of Prader Willi syndrome?

A

Microdeletion of paternal 15q11-13

Maternal uniparental disomy of chromosome 15

64
Q

Prader Willi syndrome is an example of genetic imprinting. What does this mean?

A

It is defined as a difference in phenotype dependent on whether the mutation is maternal or paternal origin

65
Q

What syndrome results in cases where the deletion of the Prader Willi gene is from the mother?

A

Angelman syndrome

66
Q

What are the six clinical features of Prader Willi syndrome?

A

Hypotonia

Short stature

Hypogonadism

Learning difficulties

Childhood obesity

Behavioural problems

67
Q

What is long QT syndrome?

A

It is an inherited condition associated with delayed repolarisation of the ventricles

68
Q

What is the normal QT interval in males?

A

< 430ms

69
Q

What is the normal QT interval in females?

A

< 450ms

70
Q

What is the cause of long QT syndrome?

A

It caused by defects in the alpha subunit of the slow delayed rectifier potassium channel

71
Q

What are the two congenital syndromes that cause long QT syndrome?

A

Romano-Ward syndrome

Jervell-Lange-Nielsen syndrome

72
Q

What are the three classifications of long QT syndrome?

A

Long QT1

Long QT2

Long QT3

73
Q

What is long QT1?

A

It is usually associated with exertional syncope, often swimming

74
Q

What is long QT2?

A

It is usually associated with syncope occurring following emotional stress, exercise or auditory stimuli

75
Q

What is long QT3?

A

It is usually associated with syncope at night or at rest

76
Q

What scan is used to diagnose long QT syndrome?

A

ECG

77
Q

What are the three features of long QT syndrome on an ECG scan?

A

Prolonged QT interval

Repolarisation anomalies

Paroxysmal polymorphic VT

78
Q

How do we manage long QT syndrome?

A

Beta blockers

79
Q

What are the two complications of long QT syndrome?

A

Ventricular tachycardia

Torsade de pointes

80
Q

What is neurofibromatosis?

A

It is a genetic condition that that results in tumour growth along nerves

81
Q

What is the inheritance of neurofibromatosis?

A

Autosomal dominant

82
Q

What are the two classification of neurofibromatosis?

A

NF 1

NF 2

83
Q

What is another term for NF1?

A

von Recklinghausen’s syndrome

84
Q

What is the cause of NF1?

A

It is caused by a gene mutation on chromosome 17 which encodes neurofibromin

85
Q

What are the six clinical features of NF1?

A

Café-au-lait spots

Axillary/groin freckles

Peripheral neurofibromas

Iris hamatomas

Scoliosis

Pheochromocytomas

86
Q

What is the cause of NF2?

A

It is caused by gene mutation on chromosome 22

87
Q

What are the four clinical features of NF2?

A

Bilateral vestibular schwannomas

Multiple intracranial schwannomas

Multiple intracranial mengiomas

Multiple intracranial ependymomas

88
Q

What is tuberous sclerosis (TS)?

A

It is a genetic condition that causes benign tumours to develop in various areas of the body

89
Q

What is the inheritance of tuberous sclerosis?

A

Autosomal dominant

90
Q

What are the five cutaneous clinical features of tuberous sclerosis?

A

Depigmented ‘ash-leaf’ spots which fluoresce under UV light

Roughened patches of skin over lumbar spine

Angiofibromas

Subungual fibromata

Cafe-au-lait spots

91
Q

What are the three neurological clinical features of tuberous sclerosis?

A

Developmental delay

Epilepsy

Intellectual impairment

Year Three - Specialities (15 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions