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Paediatric Genetics Flashcards

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1
Q

What are the genetics of fragile x?

A

Expansion of the trinucleotide repeat CGG in the FMRI gene on the X chromosome

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2
Q

How many cgg repeats cause fragile x

A

Over 200

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3
Q

How does fragile x present?

A

Long face, protruding ears, intellectual impairment, post pubertal macroorchidism, social anxiety, features of autism

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4
Q

what cardiac condition is most associated with turners

A

a bicuspid aortic valve

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5
Q

What murmur is commonly heard in turners syndrome and why?

A

a cescendo -decrescendo ejection systolic murmur
due to bicuspid aortic valve

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6
Q

What is the most serious long term health condition associated with Turner’s syndrome

A

aortic dissection

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7
Q

How does williams syndrome present?

A

very friendly social affect
elfin-like facies
learning difficulties,
short stature
transient neonatal hypercalcaemia
supravalvular aortic stenosis

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8
Q

what genetic abnormality causes william’s syndrome?

A

microdeletion on chromosome 7

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9
Q

In a child with haemophilia which relative is most likely to have it?

A

maternal uncle, maternal grandfather etc- boys get their X chromosome from their mother so will need to be from the maternal side

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10
Q

What is the inheritance of prader-willi?

A

imprinting

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11
Q

If a female has haemophilia, what genetic condition might they have and why?

A

Turner’s
Haemophilia is x linked recessive- Turner’s only have one x chromosome so may develop x linked conditions

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12
Q

what chromosome is most commonly affected in patau syndrome

A

13

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13
Q

Presentation of prader - willi sydrome

A

hypotonia during infancy
poor suck
weak cry
dysmorphic features
short stature
hypogonadism
learning difficulties
childhood obesity

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14
Q

genetics of prader willi

A

microdeletion of paternal 15q11-13

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15
Q

is prader willi inherited from father or mother

A

father

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16
Q

genetics of fragile X

A

expansion of the CGG trinucleotide repeate on the FMRI gene on the X chromosome

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17
Q

Is fragile X transmitted from the mother or father ?

A

almost always mother as X chromosome

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18
Q

How does fragile X present?

A

long face
protruding ears
intellectual impairment
post-pubertal macroorchidism
social anxiety
ASD features

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19
Q

Genetics of turners syndrome

A

loss or abnormality of the second X chromosome in girls
Denoted 45 X

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20
Q

How does turners syndrome present

A

short stature,
amenorrhoea (ovarian dysgenesis),
widely spaced nipples
neck webbing
delayed puberty
lymphoedema of hands and feet in neonate
hypothyroidism

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21
Q

what congenital cardiac abnormalities may be present in turner’s syndrome

A

bicuspid aortic valve and coarctation of the aorta

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22
Q

What cardiac conditions can cause long term health problems for those with turners syndrome

A

aortic dilation and dissection

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23
Q

what renal condition may be associated with turner’s syndrome

A

horseshoe kidney

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24
Q

what endocrine condition is increased in turners syndrome

A

hypothyroidism

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25
Genetics of angelman syndrome
loss of the maternal UBE3A gene caused by a deletion on chromosome 15
26
How does Angelman syndrome present
happy demanour fascination with water delayed development and learning disability widely spaced teeth coordination and balance problems epilepsy
27
What are the genetics of williams syndrome?
microdeletion on chromosome 7
28
how does williams syndrome present?
elfin-like facial features very friendly affect starburst eyes flatterned nasal bridge wide mouth and widely space teeth learning difficulties
29
what are 2 associated conditions with williams syndrome
transient neonatal hypercalcaemia supravalvular aortic stenosis
30
how is williams syndrome diagnosed
fish studies
31
Genetics of noonan syndrome
autosomal dominant condition- defect on chromosome 12
32
How does noonan syndrome present
similar to turners : - webbed neck - widely spaced nipples - short stature - pectus carinatum and excavatum Other features: - pulmonary valve stenosis (newborn with have a murmur) - ptosis -crytorchidism - delayed puberty - factor XI deficiency
33
diagnosis of noonan syndrome
Genetic testing Echo Coagulation profile
34
Genetics of DiGeorge syndrome
deletion in chromosome 22
35
What is another name for digeorge syndrome
velocardiofacial syndrome
36
Triad of DiGeorge syndrome
cardiac abnormalities hypoplastic thymus hypocalcaemia (due to parathyroid hypoplasia)
37
Why do you get immunodeficiency in DiGeorge's syndrome ?
as there is hypoplasia of the thymus leading to a lack of T cells.
38
Presentation of DiGeorge's syndrome
cardiac abnormalities- murmur, HF cleft lip and palate immunodeficiency cognitive impairment growth failure schizophrenia hypocalcaemia- seizures, tetany
39
How is digeorge's syndrome diagnosed?
Genetic karyotyping Serum calcium and PTH T cell count Echo
40
Pathophysiology of DiGeorge's syndrome
disruption of the development of the pharyngeal arches and pouches
41
Genetics of patau syndrome
trisomy 13
42
presentation of patau syndrome
microcephaly small eyes cleft lip and palate polydactyl scalp lesions cardiac and renal malformations
43
What are muscular dystrophies?
genetic diseases characterised by progressive degeneration and weakness of specific muscle groups
44
inheritance of duchenne's muscular dystrophy
x linked recessive
45
genetics of duchenne muscular dystrophy
a mutation in the dystrophin gene on the x chromosome
46
What is Becker's muscular dystrophy
a milder form of duchenne's muscular dystrophy, less effective dystrophin gene but sme function maintained
47
characteristic feature of myotonic muscular dystrophy
patient is unable to let go of a hand after shaking it
48
what muscular dystrophy is associated with a child sleeping with their eyes slightly open and weakness in pursing lips
fascioscapulohumeral muscular dystrophy
49
pathophysiology of duchenne muscular dystrophy
absence of dystrophin which is a cytoskeletal protein that provides structural stability to the dystroglycan complex in cell membranes Causes necrosis of the muscle fibres and replacement of them with adipose and connective tissue. Muscles become weaker and unusually firm
50
Presentation of duchenne's muscular dystrophy
usually presents around the age of 4 with clumsy walking, difficulty standing and resp failure - imbalance of lower limb strength - delayed motor milestones - unusually firm muscles - diminished muscle tone - pseudohypertrophy - normal sensation - urinary or bowel incontinence - mild to severe intellectual impairment
51
What sign is common in duchenne's muscular dystrophy
Gower's sign- patient climbs up his body to stand from seated position
52
how is duchenne's muscular dystrophy diagnosed?
serum creatinine kinase increased genetic testing EMG muscle biopsy
53
first line investigation for duchenne muscular dystrophy
creatinine kinase
54
gold standard investigation of duchenne muscular dystrophy
genetic testing
55
What are the genetics of Klinefelter's syndrome?
47XXY- it is a sex chromosome disorder where a male has an additional X chromosome
56
When does Klinefelter's often get diagnosed
in early adulthood- 20s to 30s as male infertility
57
How common is Klinefelter's syndrome?
1 in 660 men
58
What type of infertility does Klinefelter's cause?
hypergonadotrophic hypogonadism- there will be high LH and FSH and low testosterone
59
What dose the additional X chromosome in Klinefelter's syndrome do?
leads to hypoperfusion of the testes and testicular deficiency
60
Presentation of Klinefelter's syndrome
small firm testes decreased facial and pubic hair loss of libido impotence infertility tall, slender with long narrow shoulders and wide hips gynaecomastia delayed speech development
61
How is Kilnefelter's syndrome diagnosed?
karyotyping total serum testosterone- low serum LH and FSH- raised
62
How is Klinefelter's syndrome treated ?
testosterone therapy and fertility counselling
63
What complications are associated with Klinefelter's asside from infertility
diabetes, osteoporosis, CVD, breast cancer
64
Genetics of downs syndrome
trisomy 21
65
How does downs syndrome present?
hypotonia short neck short stature flattened face and nose prominent epicanthic folds upward sloping palpebral fissures single palmar crease Brushfeild spots on the iris developmental delay and learning difficulty
66
What different antenatal screening tests can be used to screen for Downs
Combined test Triple test Quadruple test
67
When can the combined test be done?
between 11 and 14 weeks gestation
68
What are the three components of the combined test
- nuchel transluceny thickness - beta- HCG - PAPPA (pregnancy associated protein A)
69
what findings of the combined test suggest Downs syndrome
increased nuchel tranlucency thickness increased beta HCG low PAPPA
70
When can the triple test be done to screen for Downs
between 14-20 weeks
71
What are the components of the triple test?
three blood results: - beta-HCG - Alpha-fetaprotein (AFP) - serum oestriol
72
what results on the triple test suggest downs syndrome
high beta HCG low AFP low oestriol
73
When can the quadruple test be done
between 14-20 weeks
74
What are the components of the quadruple test
beta-HCG (raised) AFP (low) Oestriol (low) Inhibin A (high)
75
If screening tests suggest increased risk of Downs syndrome what further antenatal test can be done
Amniocentesis Chorionic villus sampling Non-invasive prenatal testing (NIPT)
76
When can chorionic villus sampling be used?
before 15 weeks
77
What are some complications of Downs syndrome
cardiac defects- AV septal defect, Ventricular septal defect and ASD Recurrent otitis emdia Deafness Atlantoaxial instability Leukaemia Respiratory problems (obstructive sleep apnoea)
78
What cardiac abnormalities are associated with Downs syndrome and which is most common
AV septal defect (most common) Ventricular septal defect Atrial septal defect
79
What follow up tests should patients with downs syndrome receive
echo regular audiometry regular eye checks 2 yearly thyroid checks
80
Inheritance of cystic fibrosis
autosomal recessive
81
What is the genetic defect in cystic fibrosis?
Mutation in the CFTR gene found on chromosome 7
82
Pathophysiology of cystic fibrosis
The is a mutation in the CFTR anion channel which results in abnormal chloride and sodium transport and thick sticky secretions
83
How might cystic fibrosis present in newborns?
failure to pass meconium (meconium ileus)
84
How can cystic fibrosis present in infancy
prolonged neonatal jaundice faltering growth recurrent chest infections steatorrhea
85
How can cystic fibrosis present in young children
bronchiectasis rectal prolapse nasal polyps sinusitis.
86
Symptoms of cystic fibrosis (general)
Chronic cough and thick sputum production steatorrhoea- due to lack of fat digesting lipases faltering growth Fasal polyps recurrent respiratory infections diabetes mellitus jaundice clubbing
87
How is cystic fibrosis usually diagnosed ?
on the newborn heelprick test- immunoreactive trypsinogen test
88
What test is used to diagnosed cystic fibrosis beyond neonates
sweat test- pilocarpine used to produce sweat and then the sweat is tested showing chloride more than 60
89
What bacteria can colonise those with cystic fibrosis
staph aureus haemophilus influenzae klebsiella e.coli pseudomonas aeruginosa
90
Why may men with cystic fibrosis suffer infertility
absent vas deferens
91
Gold standard diagnosis of duchenne's muscular dystrophy
genetic testing (now easier than muscle biopsy)
92

3A (42 decks)

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