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Phase 3a Paediatrics > Genetics > Flashcards

Genetics Flashcards

1
Q

Klinefelters genotype

A

XXY

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2
Q

What feature do more than half of boys present at puberty with Klinefelters?

A

Gynaecomastia

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3
Q

Small testes and infertility occurs in which genetic condition?

A

Klinefelters

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4
Q

A man presents with:
- Taller height
- Wider hips
- Gynaecomastia
- Weaker muscles
- Small testicles
- Reduced libido
- Shyness
- Infertility
- Subtle learning difficulties (particularly affecting speech and language)

Possible underlying genetic condition?

A

Klinefelters syndrome

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5
Q

Name a management option for Klinefelters syndrome

A
  • Testosterone injectionsimprove many of the symptoms
  • Advanced IVF techniqueshave the potential to allow fertility
  • Breast reduction surgeryfor cosmetic purposes
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6
Q

Tall boy with femine features. Genetic condition?

A

Klinefelters syndrome

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7
Q

Genetic condition with trisomy 13

A

Patau syndrome

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8
Q

Which genetic syndrome presents with dysmorphic features and structural abnormalities such as ‘rocker bottom feet’?

A

Patau syndrome

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9
Q

A baby presents with:
- Microencephay
- Cleft lip/palate
- CHD
- Renal abnormalities
- Post-axial polydactyly
- Severe or profound mental retardation

A

Patau syndrome

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10
Q

Trisomy 18 genetic condition?

A

Edward’s syndrome
(Think of Edward an 18 year old)

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11
Q

A baby presents with:
- Small for gestational age
- CHD
- Rocker bottom feet
- Short sternum
- Overriding fingers
Possible underlying genetic condition?

A

Edward’s syndrome

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12
Q

How are the majority of Nooan syndrome cases inherited?

A

Autosomal dominant

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13
Q

A child presents with:
- Short stature
- Broad forehead
- Downward sloping eyes with ptosis
- Hypertelorism (wide space between the eyes)
- Prominent nasolabial folds
- Low set ears
- Webbed neck
- Widely spaced nipples

Possible underlying genetic condition?

A

Noonan syndrome

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13
Q

What is the main complication of Noonan syndrome?

A

Congenital heart disease, particularly pulmonary valve stenosis

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13
Q

What is the genotype for William syndrome?

A

A random microdeletion on chromosome 7q11

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14
Q

What are the clinical manifestations of William syndrome?

A
  • Broad forehead
  • Starburst eyes (a star-like pattern on the iris)
  • Flattened nasal bridge
  • Long philtrum
  • Wide mouth with widely spaced teeth
  • Small chin
  • Very sociable trusting personality
  • Mild learning disability
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15
Q

A child presents with a very sociable personality, a big smile with a wide mouth and on closer inspection you notice starbust eyes. Possible underlying genetic condition?

A

William syndrome

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16
Q

What are the 2 main associated conditions with William syndrome?

A
  • Supravalvular aortic stenosis (narrowing above the aortic stenosis)
  • Hypercalcaemia
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17
Q

Name a management option for William Syndrome?

A
  • Echocardiograms
  • BP monitoring
  • Low calcium diet
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18
Q

What are the gene changes in Prader-Willi Syndrome?

A

Functional gene loss on chromosome 15 inherited from father
(Or both copies inherited from mother)

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19
Q

What are the clinical manifestations of Prader-Willi syndrome?

A
  • Constant insatiable hungerthat leads to obesity
  • Poor muscle tone as an infant (hypotonia)
  • Mild-moderate learning disability
  • Hypogonadism
  • Fairer, soft skin that is prone to bruising
  • Mental health problems, particularly anxiety
  • Dysmorphic features
  • Narrow forehead
  • Almond shaped eyes
  • Strabismus
  • Thin upper lip
  • Downturned mouth
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20
Q

A young child presents with truncal obesity, mild-moderate learning difficulties, short stature and an insatiable appetite. Possible underlying genetic condition?

A

Prader- Willi syndrome

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21
Q

An infant initially presents with a challenging feeding (floppy when feeding) (may be failing to thrive), but then has significant food-seeking behaviour. Possible underlying genetic condition?

A

Prader-Willi syndrome

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22
Q

What is the management for Prader-Willi syndrome?

A

Growth hormone
(Improves muscle development and body composition)

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23
Q

What is Fragile X syndrome caused by?

A

A mutation in the FMR1 gene
(fragile X mental retardation 1)
(Codes for the fragile X mental retardation protein → plays a role in cognitive development in the brain)

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24
Q

What is the inheritance pattern of the FMR1 gene?

A

X-linked
(unclear whether its recessive or dominant)

25
Q

What domains of development are delayed in fragile X syndrome?

A

Speech and language development

26
Q

A child presents with:
- Intellectual disability
- A long, narrow face and large ears
- He also experiences seizures

What is a possible underlying genetic condition?

A

Fragile X syndrome

27
Q

Name 4 features of Fragile X syndrome

A
  • Intellectual disability
  • Long, narrow face
  • Large ears
  • Large testicles after puberty
  • Hypermobile joints (particularly in the hands)
  • Attention deficit hyperactivity disorder (ADHD)
  • Autism
  • Seizures
28
Q

Are males or females always affected in Fragile X syndrome?

A

Males
(Females can vary how much they are affected)

This is because females have a spare normal copy of the FMR1 gene on their other X chromosome. When the mother is phenotypically normal, the affected child may have inherited the X chromosome from their mother, or it may result from a de novo (random) mutation.

29
Q

What is the genotype for Turner’s syndrome?

A

XO
(Females have a single X chromosone)

30
Q

A young girl presents with short stature, webbed neck and widely spaced nipples. What is a possible underlying genetic condition?

A

Turner’s syndrome

31
Q

What is the elbow deformity associated with Turner’s syndrome

A

Cubitus valgus

32
Q

What are features of Turner’s syndrome?

A
  • Short stature
  • Webbed neck
  • High arching palate
  • Downward sloping eyes with ptosis
  • Broad chest with widely spaced nipples
  • Cubitus valgus
  • Underdeveloped ovaries with reduced function
  • Late or incomplete puberty
  • Most women are infertile
33
Q

Name some associated conditions with Turner’s syndrome

A
  • Recurrent otitis media
  • Recurrent urinary tract infections
  • Coarctation of the aorta
  • Hypothyroidism
  • Hypertension
  • Obesity
  • Diabetes
  • Osteoporosis
  • Various specific learning disabilities
34
Q

What are the 3 management options for Turner’s syndrome?

A
  • Growth hormone therapy → prevent short stature
  • Oestrogen + progesterone → establish female sex characteristics (regulate menstrual cycle + prevent osteoporosis)
  • Fertility treatment → increase pregnancy chances
35
Q

What gene loses it’s function causing Angelman syndrome?

A

UBE3A gene
(Specifically the copy inherited from the mother)
Deletion on chromosome 15

36
Q

A child presents with widely spaced teeth, a happy demeanour and an unusual fascination with water. What is a possible underyling genetic condition?

A

Angelman syndrome

37
Q

Name 4 features of Angelman syndrome

A
  • Delayed development and learning disability
  • Severe delay or absence of speech development
  • Coordination and balance problems (ataxia)
  • Fascination with water
  • Happy demeanour
  • Inappropriate laughter
  • Hand flapping
  • Abnormal sleep patterns
  • Epilepsy
  • Attention-deficit hyperactivity disorder
  • Dysmorphic features
  • Microcephaly
  • Fair skin, light hair and blue eyes
  • Wide mouth with widely spaced teeth
38
Q

What is muscular dystrophy?

A

Umbrella term for genetic condition that causes the gradual weakening + wasting of muscles

39
Q

What is Gower’s sign?

A

A specific technique used by children with proximal muscle weakness to stand up from the lying position

40
Q

A 5 year old boy presents with vague symptoms of muscle weakness and you notice that they use their hands on the legs to help them stand up. What could be a possible underlying genetic condition?

A

Duchennes muscular dystrophy

41
Q

What is the management for muscular dystrophy?

A

No cure
- Occupational therapy, physiotherapy, medical appliances (wheelchairs)
- Treatment of complications e.g. spinal scoliosis and heart failure

42
Q

What type of inheritance underlies Duchennes muscular dystrophy?

A

X-linked recessive
(girls can be carriers)

43
Q

What is the defective gene underlying Duchenne muscular dystrophy?

A

Dystrophin gene on the X-chromosone
(protein that helps hold muscles together)

44
Q

If a mother is a carrier of Duchenne muscular dystrophy, what are the chances her child being a carrier or having the condition?

A

If the child is a:
- Girl → 50% carroer
- Boy → 50% having the condition

45
Q

How do boys present with DMD?

A
  • 3-5 years: Muscle weakness around pelvis
  • Weakness = progressive
  • Teenager: Wheelchair bound
  • Life expectancy: 25-35 years with good management of cardiac + respiratory complications
46
Q

What are the 2 management options for DMD?

A
  • Oral steroids → slow muscle weakness progression
  • Creatine → slight improvement in muscle strength
47
Q

Which gene is affected in Beckers muscular dystrophy?

A

Dystrophin
(Very similar to Duchennes, but less severly affected and maintains some of its function)
(Management is similar Duchennes)

48
Q

An adult presents with new:
- Progressive muscle weakness
- Prolonged muscle contractions
- Cataracts
- Cardiac arrhythmias

Possible underlying genetic condition?

A

Myotonic dystrophy

49
Q

An adult patient tells you that he is unable to let go after shaking someones hand, and unable to release their grip on the doorknob after opening a door. What is a possible underlying genetic condition?

A

Myotonic dystrophy

50
Q

A child is born with a flattened face, short neck, and upward palpebral fissures. On examination, they are hypotonic with a singular palmar crease bilaterally. During the pregnancy, the 20-week anomaly scan demonstrated a raised nuchal translucency. As the child ages, they are found to have mild to moderate learning difficulties. Possible diagnosis?

A

Down syndrome

51
Q

Types of Down syndrome

A
  • Trisomy 21: an extra copy of chromosome 21 in every cell - the most common form (95%)
  • Mosaicism: an extra copy of chromosome 21 in some, but not all, cells (1%)
  • Translocation: standard 46 chromosomes, however, chromosome 21 has an extra piece attached (4-5%)
52
Q

Risk factors for Down syndrome

A
  • Advancing maternal age: risk of Down syndrome in 40 year old mother is 1:100
  • Carriers of the genetic translocation for Down syndrome
  • Previous child with Down syndrome
53
Q

Dysmorphic features of Down syndrome

A
  • Hypotonia (reduced muscle tone)
  • Brachycephaly (small head with a flat back)
  • Short neck
  • Short stature
  • Flattened face and nose
  • Prominent epicanthic folds
  • Upward sloping palpebral fissures
  • Single palmar crease
  • Sandal toe gap (between 1st and 2nd toes)
54
Q

Clinical features of Down syndrome

A

Symptoms:
* Developmental delay (gross motor delay, language delay, feeding difficulties)
* Cognitive (learning difficulties, autistic spectrum disorders)
* ENT (Recurrent otitis media, hearing loss: secondary to chronic infection)
* Gastrointestinal (constipation)

Signs:
* Facial features (brachycephaly, flat occiput, epicathal folds, upslanting palpebral fissures, short nose with low nasal bridge, small ears)
* Oral (small mouth, large, protruding tongue)
* Neck (short neck, excess skin posteriorly, neck pain)
* Hands (short hands, single palmar crease, fifth finger clinodactyly)
* Feet (sandal toe gap - between 1st and 2nd toes)
* Eyes (Brushfield spots - grey/white spots on the iris; congenital cataracts)
* Neurology (hypotonia)
* Gastrointestinal (duodenal or anal atresia or stenosis)
* Cardiovascular (heart murmur - AVSD most common)

55
Q

What is the first line test for Down syndrome?

A

Combined test
(Perfomed at 11-14 weeks gestation)

Ultrasound: measure nuchal translucency (thickness of back of neck, over 6mm)
Maternal blood tests:
* Beta-human chorionic gonadotrophin (beta-HCG) (higher result = higher risk)
* Pregnancy-associated plasma protein-A (PAPPA) (lower result = higher risk

56
Q

What does the triple test for Down syndrome involve?

A

Perform between 14-20 weeks gestation
Only maternal blood tests:
* Beta-HCG (higher result = greater risk)
* Alpha-fetoprotein (AFP) (lower result = greater risk)
* Serum oestriol (female sex hormone( (lower results = greater risk)

57
Q

What does the quadruple test for Down syndrome involve?

A

The quadruple test is performed between 14 and 20 weeks gestation. It is identical to the triple test but also includes maternal blood for inhibin-A. A higher inhibin-A indicates a greater risk.

58
Q

What are the antenatal tests for Down syndrome after the screening tests provide a risk score greater than 1 in 150?

A

The woman is offered amniocentesis or chorionic villus sampling. These tests involve taking a sample of the fetal cells, which then undergo karyotyping to give a definitive answer to whether the fetus is affected by Down’s or not.

  • Chorionic villus sampling (CVS): biopsy of placental tissue (before 15 weeks gestation)
  • Amniocentesis: aspiration of amniotic fluid (later in pregnancy)
59
Q

Management of Down syndrome

A

“management would involve members of the multidisciplinary team”.

  • Occupational therapy
  • Speech and language therapy
  • Physiotherapy
  • Dietician
  • Paediatrician
  • GP
  • Health visitors
  • Cardiologist for congenital heart disease
  • ENT specialist for ear problems
  • Audiologist for hearing aids
  • Optician for glasses
  • Social services for social care and benefits
  • Additional support with educational needs
  • Charities such as the Down’s Syndrome Association
60
Q

What are some routine follow up investigations that are important for children with Down syndrome

A
  • Regular thyroid checks (2 yearly)
  • Echocardiogram to diagnose cardiac defects
  • Refular audiometry for hearing impairment
  • Regular eye checks

Average life expectancy is 60 years

61
Q

Complications of Down syndrome

A
  • Congenital heart disease: AVSD, VSD, ASD
  • Duodenal atresia: 30% of patients
  • Short stature
  • Haematological malignancy: higher rates of AML and ALL
  • Alzheimer’s dementia : average age of onset 50-55 years
  • Epilepsy : 8% of patients
  • Obstructive sleep apnoea : estimated 30-60% of Down syndrome children
  • Hearing loss: otitis media
  • Obesity: reduced metabolic rates and hypothyroidism
  • Hypothyroidism : up to 20% of patients
  • Seborrheic dermatitis
  • Coeliac disease
  • Atlanto-axial instability
62
Q
A

Phase 3a Paediatrics (13 decks)

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