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MRCPCH Clinicals > Genetics > Flashcards

Genetics Flashcards

1
Q

What is the craniofacial appearance in Down syndrome?

A 
Round face
Flat nasal bridge
Upslanted palpebral fissures
Epicanthic folds
Brushfield spots in iris
Small mouth and protruding tongue
Small ears
Third fontanelle
Flat occiput
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2
Q

What are the non-facial features of Down syndrome?

A 
Short neck
Hypotonia
Single palmar crease
Incurved 5th finger
Sandal gap
Congenital heart disease (AVSD)
Duodenal atresia
Hirschsprung disease
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3
Q

What are the possible complications of Down syndrome?

A

Delayed motor milestones
Moderate to severe learning difficulties
Short stature
Increased susceptibility to infections
Congenital heart disease, particularly AVSD
Hypothyroidism
Hearing impairment from secretory otitis media
Visual impairment from cataracts, squints, myopia
Increased risk of leukaemia and solid tumours
Atlanto-axial instability
Coeliac disease
Epilepsy
Alzheimer’s disease

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4
Q

What is the defect in Edwards?

A

Trisomy 18

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5
Q

What are the features of Edwards?

A 
Low birthweight
Prominent occiput
Small mouth and chin
Short sternum
Fixed, overlapping fingers
'Rocker-bottom' feet
Cardiac and renal malformations
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6
Q

What is the defect in Patau?

A

Trisomy 13

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7
Q

What are the features of Patau?

A 
Structural defect of brain e.g. holoprosencephaly
Scalp defects
Microphthalmia and other eye defects
Cleft lip and palate
Polydactyly
Cardiac and renal malformations
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8
Q

What is the defect in Turner syndrome?

A

45X

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9
Q

What are the signs found in Turner syndrome?

A 
Lymphoedema of hands and feet in neonate which may persist
Spoon shaped nails
Short stature
Neck webbing or thick neck
Wide carrying angle (cubitus valgus)
Widely spaced nipples
Pigmented moles
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10
Q

What are the complications/associations with Turner syndrome?

A 
Congenital heart defects: particularly coarctation of the aorta
Delayed puberty
Ovarian dysgenesis causing infertility
Pregnancy may be possible with IVF with donated eggs
Hypothyroidism
Renal anomalies
Recurrent otitis media
Normal intellectual function in most
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11
Q

What is the risk of recurrence like in Turner syndrome?

A

low

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12
Q

How is Turner syndrome treated?

A

GH therapy and oestrogen replacement at puberty, plus management of any complications

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13
Q

What is the defect in Klinefelter syndrome?

A

47XXY

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14
Q

What are the features of Klinefelter syndrome?

A

Infertility (most common presentation)
Hypogonadism with small testes
Pubertal development my appear normal but some males benefit from testosterone therapy
Gynaecomastia in adolescence
Tall stature
Intelligence usually normal range but some have educational and psychological problems

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15
Q

What is the risk of recurrence like in Klinefelter?

A

Low

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16
Q

What is the defection fragile X?

A

CGG trinucleotide repeat

17
Q

How is fragile X inherited?

A

X-linked recessive, but 1/5 males who inherit the mutation are phenotypically normal and some female carriers have mild to moderate learning difficulties

18
Q

What are the clinical features of fragile X in males?

A 
Moderate-severe learning difficulty (mean IQ 50)
Macrocephaly
Postpubertal macro-orchidism
Characteristic facies
Mitral valve prolapse
Joint laxity
Scoliosis
Autism
Hyperactivity
19
Q

What are the characteristic facial features of fragile X?

A

Long face
Large everted ears
Prominent mandible
Broad forehead

20
Q

What is the defect in Angelman syndrome?

A

80% deletion on maternal chromosome 15
2-3% paternal uniparental disomy 15
Remainder due to stable mutations

21
Q

What are the clinical features of Angelman syndrome

A 
Unprovoked laughter/clapping
Microcephaly
Severe learning disability
Ataxia
Broad-based gait
Seizures
Characteristic EEG
22
Q

What is the defect in Alagille syndrome?

A

Deletion or mutation of JAG1 gene on chromosome 20

23
Q

How is Alagille inherited?

A

Variable autosomal dominant

24
Q

What are the major features of Alagille syndrome?

A

Cardiac: peripheral pulmonary artery stenosis ± complex malformations
Eye: posterior embryotoxon, abnormalities of the anterior chamber
Vertebral: butterfly vertebrae, hemivertebrae, rib anomalies
Hepatic: cholestatic jaundice, paucity of intrahepatic bile ducts

25
Q

What is Goldenhar syndrome also known as?

A

oculo-auriculovertebral spectrum, or 1st and 2nd and branchial arch syndrome

26
Q

How is Goldenhar inherited?

A

Mainly sporadic

27
Q

What are the major features of Goldenhar syndrome?

A

Craniofacial: asymmetry, hemifacial microsomia, micrognathia
Ears: malformed pinnas, deafness, preauricular tags
Eyes: epibulbar (scleral) dermoid cysts, microphthalmia
Oral: macrostomia, cleft lip/palate
Vertebral: hemivertebrae
Cardiac: cardiac malformations
Renal: renal malformations

28
Q

What is the principal feature in Proteus syndrome?

A

Asymmetric and disproportionate overgrowth of body parts with is progressive

29
Q

What are the possible cutaneous findings in Proteus syndrome

A 
Capillary, lymphatic or venous malformations
Naevi
Lipomas
Café-au-lait macules
Hypertrichotic patches
30
Q

How is Noonan syndrome inherited?

A

Autosomal dominant

31
Q

What is the mutation in Noonan syndrome?

A

All involve Signalling through RAS, but several different gene associations

32
Q

What are the clinical features of Noonan syndrome?

A 
Characteristic facies
Short webbed neck with trident hairline
Pectus excavatum
Short stature
Congenital heart disease, especially pulmonary stenosis and atrial septal defect, hypertrophic cardiomyopathy
Variable developmental problems
33
Q

Which syndromes are associated with a 22q11.2 deletion?

A 
DiGeorge
Velocardiofacial/Shprintzen syndrome
Conotruncal anomaly face
Caylor cardiofacial 
Autosomal dominant Opitz
34
Q

What are the main features of a 22q11 microdeletion?

A

Parathyroid hypoplasia with hypocalcaemia
Thymus hypoplasia with T lymphocyte deficiency
Congenital cardiac malformations especially interrupted aortic arch and truncus arteriosus
Cleft palate
Learning disability

35
Q

What is the defect in Williams syndrome?

A

Microdeletions involving the elastin gene on chromosome 7

36
Q

What are the main features of Williams syndrome?

A 
Short stature
Characteristic facies
Transient neonatal hypercalcaemia
Congenital heart disease (supravalvular aortic stenosis)
Mild to moderate learning difficulties
37
Q

What is the defect in Prader Willi syndrome?

A

70% deletion on paternal chromosome 15

30% maternal uniparental disomy 15

38
Q

What are the clinical features of Prader Willi syndrome?

A 
Characteristic facies
Hypotonia
Neonatal feeding difficulties
Failure to thrive in infancy
Obesity in later childhood
Hypogonadism
Developmental delay
Learning difficulties
39
Q

What are the characteristic facial features in Prader will

A

Prominent nasal bridge
High, narrow forehead
Thin upper lip
Downturned mouth

MRCPCH Clinicals (17 decks)

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