Brainscape's Knowledge GenomeTM

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


See full index

CP2 Paediatrics > Genetics & Syndromes > Flashcards

Genetics & Syndromes Flashcards

1
Q

From which parent is the chromosomal error/deletion in Angelman Syndrome?

A

Mother - complete or partial absence of chromosome 15

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

What are the characteristics of Angelman Syndrome?

A
  • Happy demeanour
  • Fascination with water
  • Intellectual disability
  • Severe delay in speech
  • Epilepsy
  • Microcephaly
  • Wide mouth + widely spaced teeth
  • Ataxia
  • ADHD
  • Fair skin/features
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the genetic error in Klinefelter Syndrome?

A

Males with an additional X chromosome i.e. XXY

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

What are the features of Klinefelter Syndrome?

A
  • Tall stature
  • Soft, youthful features
  • Gynaecomastia
  • Subfertility/infertility
  • Small testicles
  • Weak musculature
  • Narrow shoulders/Wide hips
  • Mild/subtle learning disability
  • Reduced libido
  • Small increased risk in breast cancer
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the genetic error in Turner Syndrome?

A

Females with a single X chromosome. Random/spontaneous mutation

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

What are the features of Turner Syndrome?

A
  • Webbed neck (due to cystic hygroma)
  • Short stature
  • Broad chest with widely spaced nipples
  • Infertility
  • Underdeveloped ovaries
  • High arched palate
  • Downward sloping eyes with ptosis
  • Obesity
  • Cubitus valgus (exaggerated angle of elbow away from body when arm is extended downwards)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are the genetics of Down Syndrome?

A

Trisomy 21 - usually due to non-disjunction during maternal oogenesis

Incidence increases with maternal age

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

What are the clinical features of Down Syndrome?

A
  • Hypotonia
  • Small, low set ears
  • Prominent epicanthic folds
  • Flat occiput/short neck (brachycephaly)
  • Protruding tongue
  • Short, broad hands
  • Single palmar crease
  • Wide, saddle gap between 1st & 2nd toes
  • Intellectual disability
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are the associated conditions of Down Syndrome?

A
  • 40/50% have congenital heart disease (mostly AVSD, but also ASD, VSD & Tetrology of Fallot)
  • Duodenal/anal atresia
  • Developmental hip dysplasia
  • Eczema
  • Deafness (both conductive and sensorineural)
  • Cataracts
  • Leukaemia
  • Acquired hypothyroidism
  • Epilepsy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What are the genetics of Prader-Willi Syndrome?

A

Chromosomal deletion on the proximal arm of chromosome 15. Spontaneous mutation

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

What are the clinical features of Prader-Willi Syndrome?

A
  • Constant, instatiable hunger that leads to obesity
  • Hypotonia
  • Mild/moderate learning disability
  • Hypogonadism
  • Fair, soft skin (prone to bruising)
  • Narrow forehead
  • Strabismus
  • Thin upper lip
  • Downturned mouth
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What are the genetics of Noonan Syndrome?

A

Multiple genes contribute - inherited in an autosomal dominant fashion. Affects males and females.

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

What are the clinical features of Noonan Syndrome?

A
  • Short stature
  • Broad forehead
  • Downward sloping eyes with ptosis
  • Wide spaced eyes (hypertelorism)
  • Low set ears
  • Webbed neck
  • Widely spaced nipples
  • Prominent nasolabial folds
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What are the associated conditions of Noonan Syndrome?

A
  • Congenital heart disease (particularly pulmonary stenosis, hypertrophic cardiomyopathy and ASD)
  • Cryptorchidism (undescended testes) leading to infertility (fertility unaffected in females)
  • Learning difficulties
  • Bleeding disorders
  • Lymphoedema
  • Increased risk of leukaemia and neuroblastoma
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are the associated conditions of Turner Syndrome?

A
  • Aortic stenosis
  • Coarctation of the aorta
  • Bicuspid aortic valve (most common cardiac defect)
  • Horseshoe kidney
  • Delayed puberty
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are the genetics of Marfan Syndrome?

A

Autosomal dominant condition regarding the gene responsible for creating fibrillin. Fibrillin is a component of connective tissue.

17
Q

What are the clinical features of Marfan Syndrome?

A
  • Tall stature
  • Long neck
  • Long limbs
  • Long fingers
  • Hypermobility
  • Pectus carinatum or pectus excavatum
  • Downward sloping palpable fissures
18
Q

What are the hypermobility tests used in Marfan Syndrome? (specifically for arachnodactyly or long fingers)

A
  • Cross thumb over palm, does it extend beyond outer border of the hand?
  • Wrap thumb and fingers around wrist, do they overlap?
19
Q

What are the associated conditions of Marfan Syndrome?

A
  • Lens dislocation in the eye
  • Joint dislocations and pain due to hypermobility
  • Scoliosis of the spine
  • Pneumothorax
  • Gastro-oesophageal reflux
  • Mitral valve prolapse (with regurgitation)
  • Aortic valve prolapse (with regurgitation)
  • Aortic aneurysms
20
Q

What are the genetics of Fragile X Syndrome?

A

Mutation in FMR1 gene on the X chromosome. X-linked but unclear if dominant or recessive. Males always affected. May be de novo.

21
Q

What are the clinical features of Fragile X Syndrome?

A
  • Intellectual disability
  • Long, narrow face
  • Large ears
  • Large testicles after puberty
  • Hypermobility
22
Q

What are the associated conditions of Fragile X Syndrome?

A
  • ADHD/Autism

- Seizures/Epilepsy

23
Q

What is the pathophysiology of Foetal Alcohol Syndrome?

A
  • Excessive alcohol consumption in early stages of pregnancy

- Developing foetal nervous system is sensitive to alcohol toxicity

24
Q

What are the clinical features of Foetal Alcohol Syndrome?

A
  • Low/flat nasal bridge
  • Indistinct philtrum
  • Flat midface
  • Short nose
  • Thin upper lip
  • Small chin
  • Microcephaly
  • Restricted growth
  • Developmental delay/learning difficulties
25
Q

What are the associated conditions of Foetal Alcohol Syndrome?

A
  • Cardiac defects
  • ADHD/Autism
  • Cerebral palsy
26
Q

What are the genetics of Duchenne Muscular Dystrophy?

A

X-linked recessive: carrier mother = 50% daughter being carrier, 50% male being affected

Defect in the gene for dystrophin - a protein that helps bind muscle together on a cellular level

27
Q

What are the clinical features of Duchenne Muscular Dystrophy?

A

Presents at around 3-5 years of age:

  • Progressively weak pelvic muscles
  • Eventually all muscles affected
  • Gross motor problems
  • Tendency to walk on tip toes
  • Developmental delay (particularly in walking + speech)
28
Q

What are the associated conditions of Duchenne Muscular Dystrophy?

A
  • Cardiomyopathy
  • Pneumonia
  • Mild learning disability
  • Difficulty swallowing
29
Q

What is Gower’s Sign?

A

For Duchenne Muscular Dystrophy:

  • indicates weakness of muscles of lower limbs
  • Goes from sitting to standing position using hands/knees outstretched (similar to downward dog yoga position)
30
Q

What are the genetics of Neurofibromatosis?

A

Autosomal dominant mutation on the NF1 gene on chromosome 17.

this gene codes for the neurofibrin protein, which is a tumour supressor protein.

Two variants - type 1 and type 2

Type 1 is more common

Type 2 is caused by a gene found on chromosome 22 which codes for the merlin protein, which is a tumour suppressor protein in schwann cells.

31
Q

What are the diagnostic criteria (and clinical features) of Neurofibromatosis?

A

Benign nerve tumours, diagnostic criteria can be remembered with CRABBING (for NF1). Need at least 2 of 7 features to be diagnostic

  • C: cafe-au-lait spots
  • R: relative with NF1
  • A: axillary or inguinal freckles
  • BB: Bony dysplasia (such as Bowing of a long bone)
  • I: Iris hamartomas (Lisch nodules) - yellow/brown spots in iris
  • N: neurofibromas or plexiform neurofibromas
  • G: glioma of the optic nerve

For NF2 consider bilateral vestibular schwannomas

32
Q

What are the associated conditions of Neurofibromatosis (type 1)?

A
  • Migraines
  • Epilepsy
  • Renal artery stenosis/hypertension
  • Phaeochromocytoma
  • Scoliosis
  • Vision loss (due to optic nerve gliomas)
  • Malignant peripheral nerve sheath tumours
  • Gastrointestinal stromal tumour
  • Brain tumours
  • Spinal cord tumours
  • Leukaemia
  • Generally increased risk of cancer
33
Q

What are the genetics of Tuberous Sclerosis?

A

Autosomal dominant but 70%> are de novo mutations in the TSC1 & TSC2 genes

These genes code for tumour suppressor proteins hamartin and tuberin respectively

34
Q

What are the clinical features of Tuberous Sclerosis?

A
  • Facial angiofibromas
  • Ungul fibroma
  • Hypomelanotic macules
  • Shagreen patch
  • Retinal nodular haematoma
  • Pits in dental enamel
  • Rectal polyps
  • Bone cysts
  • Gingival fibromas

CP2 Paediatrics (18 decks)

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