Brainscape's Knowledge GenomeTM

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


See full index

MRCPCH > Genetic Syndromes > Flashcards

Genetic Syndromes Flashcards

1
Q

What is the inheritance of congenital adrenal hyperplasia?

A

Autosomal recessive

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

How is Prader-Willi Syndrome inherited?

A

Usually sporadic deletion on the paternal 15q (95% cases sporadic, 5% AD)

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

How is Shwachman-Diamond syndrome inherited?

A

Autosomal recessive

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

Pancytopaenia with exocrine pancreas dysfunction suggests…

A

Shwachman-Diamond Syndrome

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

What is the genetic test of choice for DiGeorge Syndrome?

A

FISH

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

Achondroplasia is caused by mutations in which gene?

A

FGFR3

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

Tuberous sclerosis is caused by mutations in which gene?

A

TSC1

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

What proportion of children with Trisomy 21 have cardiac defects?

A

1 in 3

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

Patau Syndrome is Trisomy…

A

13

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

Edwards’ Syndrome is Trisomy…

A

18

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

Small head, low-set ears and ‘rocker bottom feet’ suggests…

A

Edwards’ Syndrome

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

What karyotype is present in Klinefelter’s Syndrome?

A

47XXY

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

A male with gynaecomastia, sparse pubic hair, small testes and infertility suggests…

A

Klinefelter’s Syndrome

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

What is the mechanism of Klinefelter’s?

A

Paternal non-disjunction during meiosis

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

Short stature, webbed neck and high palate suggests…

A

Turner’s Syndrome

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

What is the karyotype for Turner’s Syndrome?

A

45XO / 45X

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

How is Noonan’s Syndrome inherited?

A

AD

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

Short stature, wide space between eyes and low-set ears suggests…

A

Noonan’s Syndrome

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

What is the main complication associated with Noonan’s Syndrome?

A

Congenital heart disease

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

What are the main congenital heart defects associated with Noonan Syndrome?

A

Pulmonary stenosis, HOCM, ASD

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

Which cardiac problems are associated with Marfan’s Syndrome?

A

Aortic/mitral valve prolapse and aortic aneurysm

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

What is the genetic basis for Fragile X Syndrome?

A

Mutation in FMR1 gene on X Chromosome

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

Male with ID, long & narrow face suggests…

A

Fragile X Syndrome

24
Q

Which medical treatment may be indicated in Prader-Willi Syndrome?

A

Growth hormone

25
Q

What is the genetic basis of Angelman Syndrome?

A

Loss of function of maternal UBE3A gene due to a microdeletion on chromosome 15

26
Q

Child with ID, happy demeanour and widely-spaced teeth suggests…

A

Angelman Syndrome

27
Q

Friendly, broad forehead and ‘starburst eyes’ suggests…

A

William Syndrome

28
Q

What is the genetic basis for William Syndrome?

A

Deletion of genetic material on chromosome 7

29
Q

Which cardiac defect is associated with William Syndrome?

A

Supravalvular aortic stenosis

30
Q

How is hereditary spherocytosis inherited?

A

Autosomal Dominant

31
Q

What is the quickest genetic test for Down Syndrome?

A

QF-PCR for chromosome 21

32
Q

Insensitivity to pain suggests which genetic syndrome?

A

Lesch-Nyan Syndrome

33
Q

What is the inheritance pattern of Chediak-Higashi syndrome?

A

AR

34
Q

Asymmetric limb growth and hypoglycaemia suggests…

A

Beckwith-Weideman Syndrome

35
Q

Which malignancy is associated with Beckwith-Weideman Syndrome?

A

Neuroblastoma

36
Q

How is SMA inherited?

A

AR

37
Q

What is the genetic basis of SMA?

A

Deletion of SMN gee on chromosome 5q

38
Q

What is the genetic basis for congenital myotonic dystrophy?

A

CTG repeat on chromosome 9

39
Q

Rett Syndrome almost exclusively affects…

A

Females

40
Q

What is the genetic basis for Rett Syndrome?

A

Sporadic mutations in MECP2 gene on X chromosome

41
Q

Child with developmental regression, acquired microcephaly and stereotypic movements suggests…

A

Rett Syndrome

42
Q

What is the prognosis for Rett Syndrome?

A

Most live til 40-50s, most wheelchair bound by age 10

43
Q

Inherited progressive ataxia, weakness and sensory deficits suggests…

A

Friederich’s ataxia

44
Q

What is the inheritance pattern of Friederich’s ataxia?

A

AR

45
Q

What is the genetic defect in Friederich’s ataxia?

A

GAA trinucleotide repeat in FXN gene on chromosome 9

46
Q

What is the most common cause of death in Friederich’s ataxia?

A

HCM

47
Q

Overgrowth since birth, developmental issues, long, narrow face with pointed chin suggests…

A

Sotos syndrome

48
Q

Which tumours are associated with MEN1?

A

3Ps - pituitary, parathyroid, pancreatic

49
Q

Which gene is affected in MEN1?

A

MEN1

50
Q

Which gene is affected in MEN2?

A

RET

51
Q

Which tumours are associated with MEN2A?

A

1M, 2Ps - MTC, parathyroid, phaeo

52
Q

Which tumours are associated with MEN2B?

A

2Ms, 1P - MTC, marfinoid/neuroma, phaeo

53
Q

Which tumours are associated with VHL?

A

retinal/cerebellar haemangiomas
Renal and extra-renal cysts

54
Q

What is the genetic basis of McCune-Albright Syndrome?

A

Sporadic mutation in GNAS

55
Q

Cafe-au-lait spots, precocious puberty and joint pain suggests…

A

McCune-Albright Syndrome

56
Q

In NF1 there is an increased risk of which tumours?

A

Optic gliomas and phaeo’s

57
Q

In NF2 there is an increased risk of which tumours?

A

Nervous system - schwannomas, ependymomas, meningiomas

MRCPCH (11 decks)

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