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YR5 Paediatrics > Chromosomal Syndromes > Flashcards

Chromosomal Syndromes Flashcards

1
Q

Define Down’s Syndrome.

A

Trisomy 21

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2
Q

Define Edward’s Syndrome.

A

Trisomy 18

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3
Q

Define Patau Syndrome.

A

Trisomy 13

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4
Q

Define Noonan Syndrome.

A

Autosomal dominant
Defect in a gene on chromosome 12
De novo mutations are possible.

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5
Q

Define Turner Syndrome.

A

45, XO

Genetic defect, in females, resulting from the complete or partial absence of an X chromosome

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6
Q

Define Klinefelter Syndrome.

A

47, XXY

Genetic defect of the sex chromosomes in males

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7
Q

Define Prader-Willi Syndrome.

A

Imprinting disorder affecting the paternal copy of chromosome 15.

(Paternal Prader-Willi)

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8
Q

Define Angelman syndrome

A

Imprinting disorder affecting the maternal copy of chr15

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9
Q

Define Fragile X

A

X-linked dominant disease caused by a CGG trinucleotide repeat expansion in FMR1 gene

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10
Q

Define William’s syndrome

A

multisystem developmental disorder caused by a deletion at chromosome 7

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11
Q

Which chromosome is affected in Cri du Chat?

A

Chromosome 5

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12
Q

What combined test results are indicative of Down’s Syndrome?

A

↑ HCG
↓ PAPP-A
Thickened nuchal translucency

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13
Q

What quadruple test results are indicative of Down’s Syndrome?

A

↑ HCG
↑ Inhibin A
↓ AFP (alpha-fetoprotein)
↓ Unconjugated Oestriol

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14
Q

Give 7 facial features in Down syndrome

A

Upslanting palpebral fissures
Epicanthic folds
Brushfield spots in iris
Protruding tongue
Small low-set ears
Round/ flat face

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15
Q

What is 5 clinical features is Down’s Syndrome associated with?

A

Single palmar crease, pronounced ‘sandal gap’ between big + first toe
Hypotonia
Congenital heart defects (40-50%)
Duodenal atresia
Hirschsprung’s disease

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16
Q

What cardiac complication is most common in Down’s syndrome?

A

AVSD (endocardial cushion defect) 40%
VSD (30%)

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17
Q

Give 9 conditions commonly seen in Down syndrome

A

Learning difficulties
Short stature
Atlantoaxial instability
Chronic secretory otitis media- conductive hearing loss.
Recurrent respiratory infections
Hypothyroidism

ALL
Alzheimers
Subfertility

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18
Q

Summarise the epidemiology of Down’s Syndrome.

A

1/700 live births.

Most common genetic cause of learning difficulties.

2nd affected child is 1/200 if >35 + double the age-specific rate if <35.

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19
Q

Summarise the epidemiology of Edward’s Syndrome.

A

1 in 5000 live births.

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20
Q

Summarise the epidemiology of Patau Syndrome.

A

1 in 15,000 live births.

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21
Q

Summarise the epidemiology of Turner Syndrome.

A

1/2500 females.

No race/ethnic trends.

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22
Q

Summarise the epidemiology of Klinefelter Syndrome.

A

1/1000 males.

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23
Q

Summarise the epidemiology of Prader-Willi Syndrome.

A

1 in 25,000 newborns.

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24
Q

What are 6 presenting features of Turner Syndrome?

A

CHD: Bicuspid aortic valve (15%), Coarctation of aorta (5-10%)
Cystic hygroma
Horseshoe kidneys (40%)
Hypothyroidism
Primary amenorrhoea, ovarian failure + infertility (high gonadotrophins)
Failure of breast development, although normal pubic hair development.

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25
Q

What are 7 physical signs of Turner Syndrome?

A
  • Neonatal lymphoedema of the hands, feet + cutis laxa (loose folds of skin, esp. at the neck)
  • Short stature
  • Webbed neck
  • Wide carrying angle (cubitus valgus)
  • Broad chest with widely spaced nipples (shield chest)
  • Multiple pigmented naevi
  • Short fourth metacarpal
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26
Q

Which autoimmune/ auto inflammatory diseases are more common in Turners?

A

AI Thyroiditis
Crohns

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27
Q

What may be diagnosed pre-natally in Turners syndrome?

A

Cystic hygroma

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28
Q

What are 6 signs and symptoms of Klinefelter Syndrome?

A

Tall stature
Hypogonadism: lack of secondary sexual characteristics
High gonadotrophin levels but low testosterone
Small, firm testes
Infertile
Gynaecomastia: increased incidence of breast cancer

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29
Q

What are 5 signs and symptoms of Patau Syndrome?

A

Microcephalic
Small eyes
Cleft lip/palate
Polydactyly
Scalp lesions

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30
Q

What are 4 signs and symptoms of Edward’s Syndrome?

A

Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers

31
Q

What are 5 signs and symptoms of Fragile X syndrome?

A

Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism

32
Q

What are 4 signs and symptoms of Noonan syndrome?

A

Webbed neck
Pectus excavatum
Short stature
Cardiac: Pulmonary valve stenosis

33
Q

Describe the intellectual development in Noonan syndrome

A

Delayed intellectual development
Normal by adulthood in 2/3

34
Q

What haematological problem may be seen in Noonan syndrome?

A

Factor XI deficiency

35
Q

What are 3 signs and symptoms of Pierre Robin Syndrome?

A

Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate

36
Q

What are 3 signs and symptoms of Prader-Willi syndrome?

A

Hypotonia
Hypogonadism
Obesity

37
Q

What are 5 signs and symptoms of William’s Syndrome?

A

Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis

38
Q

Give 5 signs/ symptoms of Cri-du-chat syndrome

A

Characteristic cry due to larynx + neurological problems
Feeding difficulties + poor weight gain
Learning difficulties
Microcephaly + micrognathism
Hypertelorism

39
Q

What investigation should be performed for general chromosomal syndromes?

A

Karyotyping

40
Q

When is the combined screening test performed? When is the quadruple test performed?

A

Combined: 11-13+6w
Quad: 15-20w

41
Q

What combined test results are indicative of Patau syndrome?

A

↓ HCG
↓ PAPP-A
Thickened nuchal translucency

42
Q

What combined test results are indicative of Edward’s syndrome?

A

↓ HCG
↓ PAPP-A
Thickened nuchal translucency

43
Q

What quadruple test results are indicative of Edward’s syndrome?

A

↓ AFP
↓ Unconjugated Oestriol
↓ HCG
Normal Inhibin A

44
Q

What quadruple test results are indicative of Neural Tube defects?

A

↑ AFP
Normal Unconjugated Oestriol
Normal HCG
Normal Inhibin A

45
Q

What do the combined and quadruple screening tests provide?

A

Return either a ‘lower chance’ or ‘higher chance’ result

‘lower chance’: 1 in 150 chance or more e.g. 1 in 300

‘higher chance’: 1 in 150 chance or less e.g. 1 in 100

46
Q

If a women has a higher chance result from initial screening, what occurs?

A

Offered 2nd screening test (NIPT) or a diagnostic test (e.g. amniocentesis or chorionic villus sampling (CVS).

47
Q

What does NIPT analyse?

A

Non-invasive pre-natal screening test
analyses small DNA fragments that circulate in the blood of a pregnant woman (cell free fetal DNA, cffDNA)
cffDNA is derived from placental cells + is usually identical to fetal DNA

48
Q

When can diagnostic tests of chromosomal syndromes be performed?

A

Chorionic villus sampling: 11-14w. Tests placental tissue. Transabdominal or Transcervical.
Amniocentesis: 15-20w. Tests amniotic fluid. Transabdominal.

49
Q

What tests should be performed in a child with Down’s Syndrome?

A

Screening for complications: Echocardiography, TFTs, hearing + vision tests.

50
Q

How do Noonan and Turners syndrome differ?

A

Noonan: Effects M + F
Turners: F

51
Q

What investigations should be performed for Noonan Syndrome?

A

Molecular genetic test: Ras/MAPK pathway mutations e.g. PTPN11

FBC + Coagulation screen
ECG + Echo
Renal USS

Karyotype = NORMAL

52
Q

What investigations should be performed for Turner Syndrome?

A

Chromosomal studies: Karotype confirmation

Bloods:
U+Es
TFTs
Increased LH + FSH confirm ovarian failure.

Renal USS
ECG + Echo

53
Q

What is the management for Down’s Syndrome?

A

Multidisciplinary approach: Parental education + support, genetic counselling, IQ testing with appropriate educational input, regular follow-up.

Medical: Abx in recurrent resp. infections, thyroid hormone for hypothyroidism.

Surgical: Congenital heart defects, oesophageal/ duodenal atresia.

54
Q

What is the management for Edward’s Syndrome?

A

MDT approach:

OT + PT.

NG tube.

Nursing care.

Counselling + parent support.

55
Q

What is the management for Patau Syndrome?

A

Palliative care as most babies will die within 1st few days.

Counselling and support.

56
Q

What is the management for Noonan Syndrome?

A

Correction of congenital heart defects.

Recombinant growth hormone.

Refer to urology for cryptorchidism.

57
Q

What is the management for Turner Syndrome?

A

Surgical tx: Congenital heart defect correction, grommets (significant secretory otitis media), plastic surgery (neck webbing), remove of gonads if present (50% malignant change).

Hormonal tx:

  • Growth hormone therapy.
  • Oestrogen replacement therapy (12–15 years)
58
Q

What is the management for Klinefelter Syndrome?

A

Conservative: SALT, educational + behavioural therapy, OT, PT + psychological therapy.

Medical: Fertility tx, testosterone replacement or ICSI.

Surgery: Breast reduction surgery.

59
Q

What is the management for Prader-Willi syndrome?

A

Weight management: Refer to obesity

Cryptorchidism: Surgery

Hormone treatments: GH supplements.

Psychological: CBT, SSRIs

60
Q

What are the complications for Down’s syndrome?

A

Decreased fertility.

Increased risk of leukaemia; transient myeloproliferative disorder + AML (mutations in the haematopoietic transcription factor gene, GATA1).

Increased incidence of Alzheimer’s disease by 40 years (amyloid protein coding gene located on chromosome 21).

61
Q

What are the complications for Edward’s Syndrome?

A

Cardiac abnormalities

Feeding difficulties

Aspiration pneumonia

62
Q

What are the complications for Patau Syndrome?

A

Kidney defects

Spinal defects

Infections

Intellectual disability + motor disorder

63
Q

What are the complications for Noonan Syndrome?

A

Cardiac abnormalities

64
Q

What are the complications for Turner Syndrome?

A

Infertility

Shorter stature

Psychological effects

65
Q

What are the complications for Klinefelter’s Syndrome?

A

Increased risk T2DM

Cardiovascular disease

Hypothyroidism

Anxiety

Male breast cancer

66
Q

What are the complications for Prader-Willi Syndrome?

A

Obesity

Type 2 Diabetes Mellitus

Metabolic syndrome

Psychosis

67
Q

What is the prognosis for Down’s Syndrome?

A

Antenatal: 75% of trisomy 21 spontaneously abort.

Childhood: 15–20% of Down syndrome children die <5 years, usually due to severe Congenital heart disease.

Adulthood: 50% survive >50 years but undergo premature ageing.

68
Q

What is the prognosis of Edward’s Syndrome?

A

12% of infants survive longer than a year.

69
Q

What is the prognosis for Patau Syndrome?

A

More than 80% die within 1st year of life.

70
Q

What is the prognosis for Noonan Syndrome?

A

Will require several medical interventions – may die of cardiology complication.

71
Q

What is the prognosis for Turner Syndrome?

A

Can live a normal + healthy life.

Life expectancy is reduced.

72
Q

What is the prognosis for Klinefelter Syndrome?

A

Can live a normal + healthy life.

Previously associated with prison life.

73
Q

What is prognosis for Prader-Willi syndrome?

A

Shortened life expectancy due to complications of morbid obesity + increased pain threshold.

YR5 Paediatrics (116 decks)

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