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MRCPCH FOP/TAS > Genetic Syndromes > Flashcards

Genetic Syndromes Flashcards

1
Q

What is the inheritance of congenital adrenal hyperplasia?

A

Autosomal recessive

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2
Q

How is Prader-Willi Syndrome inherited?

A

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

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3
Q

How is Shwachman-Diamond syndrome inherited?

A

Autosomal recessive

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4
Q

Pancytopaenia with exocrine pancreas dysfunction suggests…

A

Shwachman-Diamond Syndrome

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5
Q

What is the genetic test of choice for DiGeorge Syndrome?

A

FISH

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6
Q

Achondroplasia is caused by mutations in which gene?

A

FGFR3

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7
Q

Tuberous sclerosis is caused by mutations in which gene?

A

TSC1

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8
Q

What proportion of children with Trisomy 21 have cardiac defects?

A

1 in 3

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9
Q

Patau Syndrome is Trisomy…

A

13

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10
Q

Edwards’ Syndrome is Trisomy…

A

18

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11
Q

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

A

Edwards’ Syndrome

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12
Q

What karyotype is present in Klinefelter’s Syndrome?

A

47XXY

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13
Q

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

A

Klinefelter’s Syndrome

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14
Q

What is the mechanism of Klinefelter’s?

A

Paternal non-disjunction during meiosis

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15
Q

Short stature, webbed neck and high palate suggests…

A

Turner’s Syndrome

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16
Q

What is the karyotype for Turner’s Syndrome?

A

45XO / 45X

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17
Q

How is Noonan’s Syndrome inherited?

A

AD

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18
Q

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

A

Noonan’s Syndrome

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19
Q

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

A

Congenital heart disease

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20
Q

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

A

Pulmonary stenosis, HOCM, ASD

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21
Q

Which cardiac problems are associated with Marfan’s Syndrome?

A

Aortic/mitral valve prolapse and aortic aneurysm

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22
Q

What is the genetic basis for Fragile X Syndrome?

A

Mutation in FMR1 gene on X Chromosome

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23
Q

Male with ID, long & narrow face suggests…

A

Fragile X Syndrome

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24
Q

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

A

Growth hormone

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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

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26
Q

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

A

Angelman Syndrome

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27
Q

Friendly, broad forehead and ‘starburst eyes’ suggests…

A

William Syndrome

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28
Q

What is the genetic basis for William Syndrome?

A

Deletion of genetic material on chromosome 7

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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

58
Q

Which ion channel is usually affected in long QT syndrome?

A

K+

59
Q

Which ion channel is usually affected in long QT syndrome?

A

K+

60
Q

Which ion channel is usually affected in long QT syndrome?

A

K+

61
Q

What is the pattern of mitochondrial inheritance?

A

Always inherited from mother
All children of affected mothers affected
No children of affected males affected

62
Q

Inherited infantile encephalopathy and neurological symptoms suggests…

A

Leigh Syndrome

63
Q

Inherited pigmentary retinopathy, myopathy and deafness suggests…

A

Kearns-Sayre Syndrome

64
Q

Stroke-like episodes, seizures and lactic acidosis suggests…

A

MELAS

65
Q

Which protein is defective in Marfan Syndrome?

A

Fibrillin-1

66
Q

How is Bartter Syndrome inherited?

A

AR

67
Q

What is the defect in Bartter Syndrome?

A

Salt-wasting due to inability to re-absorb salts in the thick ascending loop of henle - due to NKCC2 or ROMK defects

68
Q

‘Almond-shaped eyes’ suggests…

A

Prader-Willi Syndrome

69
Q

What is the chance of affected offspring if one parent has a balanced robertsonian translocation of chromosome 21?

A

100%

70
Q

Broad nose, neonatal hypercalcaemia and aortic stenosis suggests…

A

Williams Syndrome

71
Q

What is the genetic basis of Williams syndrome?

A

Microdeletion chromosome 7

72
Q

What is the first-line genetic test for developmental delay?

A

Microarray

MRCPCH FOP/TAS (11 decks)

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