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Paediatrics > Chromosomal Abnormalities > Flashcards

Chromosomal Abnormalities Flashcards

1
Q

What is the mutation in Patau’s?

A

Trisomy 13

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2
Q

What is the clinical presentation of Patau’s?

A
  • Microcephaly
  • Micropthalmia
  • Cleft Palate/ lip
  • Polydactyly
  • Omphalocele/ gastroschisis
  • Cardiac defects (VSD, PDA, dextrocardia)
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3
Q

What is the mutation in Edward’s?

A

Trisomy 18

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4
Q

What is the presentation of Edward’s?

A
  • Rocker bottom feet
  • Overlapping fingers
  • Intellectual disability
  • Low-set ears
  • Low birth weight
  • Omphalocele/ gastroschisis
  • Cardiac/ renal and GI abnormalities
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5
Q

What is the difference between an omphalocele and gastroschisis?

A

Omphalocele is covered with a membrane, gastroschisis is not

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6
Q

What is the mutation in Down’s syndrome?

A

Trisomy 21

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7
Q

What is the mutation in Noonan’s syndrome?

A

Mutated RAS/ Mitogen activated protein kinase

PTPN11 gene associated with pulmonary stenosis

RAF1 gene associated with cardiomyopathy

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8
Q

What is the presentation of Noonan’s?

A
  • Webbed neck
  • Trident hairline
  • Cardiac (cardiomyopathy, pulmonary stenosis)
  • Pectus excavatum
  • Short stature
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9
Q

What is the mutation in Prader-Willi Syndrome?

A

Deletion PWS section of q arm chromosome 15

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10
Q

What is the difference between Prader Willi and Angelman’s syndrome?

A

Prader Willi is a lack of the paternal PWS region on chromosome 15

Angelman is a lack of maternal PWS region on chromosome 15

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11
Q

What is the presentation of Angelman syndrome?

A
  • Cognitive impairment
  • Ataxia
  • Epilepsy (myoclonic seizures)
  • Abnormal facial appearance
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12
Q

What is the presentation of PWS?

A

Fat, floppy, flacid
- Hypotonia
- Hyperphagia
- Almond-shaped eyes
- Obesity (in later childhood due to insatiable appetite)
- Hypogonadism
- Epicanthal folds
- Flat nasal bridge and upturned nose
- Intellectual disability

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13
Q

What is the mutation in Turner’s syndrome?

A

45X

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14
Q

What is the presentation of Turner’s syndrome?

A
  • Short stature
  • Primary amenorrhoea
  • Delayed puberty (lack of 2ndary sexual characteristics)
  • Widely spaced nipples
  • Intellectual disability
  • Webbed neck
  • Infertility
  • Hypothyroidism
  • Omphalocele/ gastroschisis
  • Bicuspid aortic valve > aortic coarctation (ESM over aortic valve)
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15
Q

What is the mutation in Klienfelter’s?

A

47XXY

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16
Q

What is the presentation of Klienfelter’s?

A
  • Infertility
  • Hypogonadism (microorchidism)
  • Gynaecomastia
  • Tall stature
17
Q

What is the presentation of fragile X syndrome?

A
  • IQ 20-80 (2nd most common cause of low IQ after down’s)
  • Macrocephaly
  • Macroorchidism
  • Large, low set ears
  • Long, thin face
  • Autism
  • Joint laxity
  • Scoliosis
  • Mitral valve prolapse
17
Q

What is the mutation in fragile X syndrome?

A

CGG trinucleotide repeat expansion mutation (fragile)

FMR1 gene

18
Q

What is the presentation of foetal alcohol syndrome?

A
  • Microcephaly
  • Absent philtrum
  • Cardiac abnormalities
  • Reduced IQ
  • IUGR
  • Small upper lip
19
Q

What is the presentation of varicella in utero?

A
  • Skin scarring
  • Eye defects (micropthalmia)
  • Neurological defects (low IQ, microcephaly)
20
Q

What is the presentation of syphilis contracted in utero?

A
  • Rhinitis
  • Saddle-nose
  • Sensorineural deafness
  • Hepatosplenomegaly
  • Jaundice
21
Q

What is the inheritance pattern of Noonan’s?

A

Autosomal dominant

22
Q

What is the management of PWS/ Angelman’s?

A
  • Growth hormone if evidence of growth failure
  • Management of feeding and obesity
23
Q

What is the managment of Turner’s syndrome?

A
  • Growth hormone therapy (plot heigh on syndrome specific growth charts)
  • Oestrogen replacement (at time of puberty for development of secondary sexual characteristics)
24
Q

How many TNT repeats are required for fragile X syndrome to develop?

A

> 200

Mutation is unstable and can expand between subsequent generations resulting in more severe forms of the disease

25
Q

What is the most common chromosomal pathology causing Down’s syndrome?

A

Meiotic non-dysjunction (maternal age)

95% - error at meiosis, pair of chromosome 21 fails to separate

26
Q

What is the 2nd most common chromosomal pathology causing down’s syndrome?

A

Translocation (5%)

Robertsonian translocation - extra chromosome 21 joined to another chromosome (usually 14)

Paternal chromosome analysis recommended - risk of recurrence 10-15% if mother is a translocation carrier

27
Q

What is the 3rd most common translocation causing down’s syndrome?

A

Mosaicism (1%)

Milder phenotype, some cells normal some have trisomy 21

28
Q

What is the immediate management of trisomy 21?

A
  • ECG (AVSD) and evaluation by paediatricians (duodenal atresia)
  • Genetic counselling

Early intervention programmes to reduce developmental delay:
- Physiotherapy - prevent abnormal compensatory movements for physical limitations
- Occupational therapy - fine motor and self-care
- SALT - speech intelligibility and manage language delay

29
Q

What is the long-term management of trisomy 21?

A
  • Annual hearing test, thyroid levels and ophthalmic evaluation (up to 5 years then every 2 years)
  • Haemoglobin levels for IDA
  • Monitor symptoms for OSA
  • Monitor growth using updated Down’s syndrom growth charts
30
Q

Which two syndromes (congenital) are associated with Wilm’s tumour development?

A

WAGR syndrome
Beckwith Weidermann syndrome

31
Q

What is the presentation of WAGR syndrome?

A

W - Wilm’s tumour
A - Anaridia
G - GU malformations
R - Range of developmental delays

32
Q

What is the presentation of Beckwith Weidermann syndrome?

A
  • Large body habitus at birth
  • Macroglossia
  • Tall for age
33
Q
A

Paediatrics (16 decks)

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