Phase 4 > Paediatrics (Genetics) > Flashcards

Paediatrics (Genetics) Flashcards

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1
Q

What is the genotype in Klinefelter syndrome?

A

47,XXY

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2
Q

What feature do over half of boys with Klinefelter syndrome develop at puberty?

A

Gynaecomastia

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3
Q

Which genetic condition causes small testes and infertility in males?

A

Klinefelter syndrome

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4
Q

A tall male with wide hips, small testes, gynaecomastia, reduced libido, and subtle language delay — likely diagnosis?

A

Klinefelter syndrome

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5
Q

What fertility option may allow some men with Klinefelter syndrome to father children?

A

Testicular sperm extraction (TESE)

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6
Q

Name a management option for Klinefelter syndrome.

A

Testosterone replacement therapy

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7
Q

Which genetic condition is caused by trisomy 13?

A

Patau syndrome

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8
Q

Which syndrome presents with severe structural abnormalities including rocker-bottom feet?

A

Patau syndrome

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9
Q

A newborn with microcephaly, cleft lip/palate, polydactyly, and congenital heart disease — diagnosis?

A

Patau syndrome

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10
Q

What is the prognosis for Patau syndrome?

A

Most infants die in early infancy

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11
Q

Which condition is caused by trisomy 18?

A

Edwards syndrome

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12
Q

Newborn with overlapping fingers, rocker-bottom feet, IUGR — diagnosis?

A

Edwards syndrome

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13
Q

What is the prognosis for Edwards syndrome?

A

High mortality in infancy

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14
Q

What is the inheritance pattern of Noonan syndrome?

A

Autosomal dominant

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15
Q

Child with short stature, ptosis, hypertelorism, webbed neck, widely spaced nipples — diagnosis?

A

Noonan syndrome

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16
Q

Most common cardiac abnormality in Noonan syndrome?

A

Pulmonary valve stenosis

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17
Q

Another cardiac issue in Noonan syndrome?

A

Hypertrophic cardiomyopathy

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18
Q

What genetic change causes Williams syndrome?

A

Microdeletion at 7q11.23 (ELN gene)

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19
Q

Facial features of Williams syndrome?

A

Broad forehead, starburst iris, wide mouth, small chin

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20
Q

A sociable child with a wide smile and starburst eyes — diagnosis?

A

Williams syndrome

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21
Q

Two key associated conditions in Williams syndrome?

A

Supravalvular aortic stenosis, hypercalcaemia

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22
Q

One management step in Williams syndrome?

A

Echocardiogram to assess aortic stenosis

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23
Q

What genetic mechanism causes Prader–Willi syndrome?

A

Loss of paternal chromosome 15q11–13

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24
Q

Hallmark feature of Prader–Willi syndrome after infancy?

A

Insatiable appetite → obesity

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25
Early infant feature of Prader–Willi syndrome?
Hypotonia with poor feeding
26
Dysmorphic facial features in Prader–Willi syndrome?
Almond-shaped eyes, narrow forehead, thin upper lip
27
Hormone therapy for Prader–Willi syndrome?
Growth hormone
28
What gene is mutated in Fragile X syndrome?
FMR1 gene
29
Inheritance pattern of Fragile X syndrome?
X-linked
30
Which developmental area is most affected in Fragile X syndrome?
Speech and language
31
Child with learning disability, long face, large ears, and seizures — diagnosis?
Fragile X syndrome
32
Physical feature seen after puberty in Fragile X males?
Macro-orchidism
33
What is the genotype in Turner syndrome?
45,X
34
Girl with short stature, webbed neck, widely spaced nipples — diagnosis?
Turner syndrome
35
What elbow deformity is associated with Turner syndrome?
Cubitus valgus
36
Three key features of Turner syndrome?
Short stature, streak ovaries, coarctation of aorta
37
One management step in Turner syndrome?
Growth hormone therapy
38
Which gene is deleted in Angelman syndrome?
Maternal UBE3A gene on chromosome 15
39
Child with happy demeanour, inappropriate laughter, ataxia, fascination with water — diagnosis?
Angelman syndrome
40
Two neurological features of Angelman syndrome?
Severe speech delay, seizures
41
What gene is mutated in Duchenne muscular dystrophy?
Dystrophin gene (X-linked recessive)
42
What is Gower’s sign?
Using hands to climb up legs when standing (proximal weakness)
43
Typical age of symptom onset in Duchenne MD?
3–5 years
44
First-line treatment to slow Duchenne MD progression?
Oral corticosteroids
45
What gene is affected in Becker muscular dystrophy?
Dystrophin (partially functioning)
46
How does Becker MD differ from Duchenne?
Milder and later onset
47
Key feature of myotonic dystrophy?
Inability to relax grip (myotonia)
48
Adult with cataracts, muscle weakness, cardiac arrhythmias — diagnosis?
Myotonic dystrophy
49
What chromosomal abnormality causes Down syndrome?
Trisomy 21
50
Two risk factors for Down syndrome?
Maternal age, Robertsonian translocation
51
Three dysmorphic features of Down syndrome?
Upward slanting palpebral fissures, single palmar crease, sandal gap
52
Most common congenital heart defect in Down syndrome?
Atrioventricular septal defect (AVSD)
53
GI condition strongly associated with Down syndrome?
Duodenal atresia
54
First-line antenatal screening test for Down syndrome?
Combined test (11–14 weeks)
55
When is the quadruple test used?
14–20 weeks
56
Definitive antenatal test for Down syndrome?
CVS or amniocentesis with karyotype
57
One important long-term screening recommendation in Down syndrome?
Regular thyroid function tests
58
What gene mutation causes Marfan syndrome?
FBN1 (fibrillin-1)
59
Key cardiac complication in Marfan syndrome?
Aortic root dilation → dissection
60
Eye feature associated with Marfan syndrome?
Upward lens subluxation
61
Typical body habitus of Marfan syndrome?
Tall stature, long limbs, arachnodactyly
62
First-line treatment to slow aortic dilation in Marfan syndrome?
Beta-blockers
63
What genetic lesion causes DiGeorge syndrome?
22q11.2 deletion
64
What does CATCH-22 stand for?
Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, Hypocalcaemia
65
What immune defect occurs in DiGeorge syndrome?
T-cell deficiency
66
Most common cardiac defect in DiGeorge syndrome?
Tetralogy of Fallot
67
Typical features of Beckwith–Wiedemann syndrome?
Macroglossia, macrosomia, hemihypertrophy
68
Neonatal metabolic problem in Beckwith–Wiedemann syndrome?
Hypoglycaemia
69
Cancer risk increased in Beckwith–Wiedemann syndrome?
Wilms tumour
70
Screening recommendation in Beckwith–Wiedemann syndrome?
Abdominal ultrasound + AFP every 3 months
71
What gene mutation causes NF1?
NF1 gene on chromosome 17
72
Two hallmark signs of NF1?
Café-au-lait spots, axillary freckling
73
What eye tumour is associated with NF1?
Optic glioma
74
What skin lesions are pathognomonic in NF1?
Neurofibromas
75
Genes mutated in tuberous sclerosis?
TSC1 and TSC2
76
Two skin features of tuberous sclerosis?
Ash leaf patches, facial angiofibromas
77
Kidney tumour associated with tuberous sclerosis?
Renal angiomyolipoma
78
Common neurological complication in tuberous sclerosis?
Seizures
79
Typical facial features of fetal alcohol syndrome?
Smooth philtrum, thin upper lip, small palpebral fissures
80
Two neurodevelopmental issues in fetal alcohol syndrome?
Learning difficulties, behavioural problems
81
Prenatal risk factor for fetal alcohol syndrome?
Maternal alcohol consumption
82
What is the most common genetic cause of short-limbed dwarfism?
Achondroplasia
83
What gene mutation causes achondroplasia?
FGFR3 gene mutation
84
What is the inheritance pattern of achondroplasia?
Autosomal dominant (with most cases due to new mutations)
85
What is the key growth pattern seen in achondroplasia?
Rhizomelic shortening (short proximal limbs)
86
What are characteristic facial features of achondroplasia?
Frontal bossing and midface hypoplasia
87
What spinal complication is associated with achondroplasia?
Lumbar spinal stenosis
88
What serious complication can occur in infants with achondroplasia?
Foramen magnum stenosis → risk of apnea or sudden death
89
What is the typical intelligence level in achondroplasia?
Normal intelligence
90
What triad defines Pierre Robin sequence?
Micrognathia, glossoptosis, cleft palate
91
What is the main airway concern in Pierre Robin sequence?
Airway obstruction due to posteriorly displaced tongue
92
What feeding issue is common in Pierre Robin sequence?
Poor feeding due to cleft palate and airway obstruction
93
What condition is Pierre Robin sequence commonly associated with?
Stickler syndrome
94
What is the first-line management for airway obstruction in Pierre Robin sequence?
Prone positioning
95
What surgical procedure may be needed for severe airway obstruction in Pierre Robin sequence?
Mandibular distraction or tongue–lip adhesion
96
What type of cleft is typically present in Pierre Robin sequence?
U-shaped cleft palate
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