Brainscape's Knowledge GenomeTM

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


See full index

Paediatrics > Genetics > Flashcards

Genetics Flashcards

1
Q

Incidence of Down Syndrome in live births

A

1 in 650

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

Signs of Down Syndrome x7

A

Facies, hypotonic, flat occiput, short neck, single palmar creases, incurved 5th finger, wide ‘sandal’ gap between big and second toe

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

Heart disease in Down Syndrome

A

Congenital heart disease in 30%

Atrioventricular septal defect is a major cause of early mortality

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

Later medical problems with Down Syndrome x6

A 
Delayed motor milestones
Learning difficulties
Short stature
Increased susceptibility to infection 
Hearing impairment 
Visual impairment
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Why hearing impairment in Downs Syndrome?

A

Due to secretory otitis media

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

Disease risks with down syndrome x5

A 
Increased risk of leukaemia and solid tumours
Increased risk of hypothyroidism 
Coeliac disease
Epilepsy 
Alzheimer's Disease
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is Edwards Syndrome? Incidence

A 
Trisomy 18, 1 in 8000 live births
Micrognathia
Low-set ears
Rocker bottom feet
Overlapping fingers
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is Patau Syndrome? Incidence

A 
Trisomy 13, 1 in 14,000 live births
Microcephalic 
Small eyes
Cleft lip/palate
Polydactyly
Scalp lesions
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Features of Patau and Edwards

A

Very severe mental and physical disabilities

Majority of affected babies die in infancy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is 45, XO, incidence

A

Turner syndrome, 1 in 2500 of live born females

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

Consequence of Turner syndrome

A

> 95% result in early miscarriage

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Features of Turner Syndrome x11

A 
Short stature (may be only feature)
Spoon-shaped nails
Neck webbing 
Wide carrying angle (cubitus valgus) 
Delayed puberty 
Infertility due to ovarian dysgenesis 
Hypothyroid
Renal abnormalities
Lymphoedema of hands and feet in neonate which may persist 
Congenital heart defects
Recurrent otitis media
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Treatment of Turner Syndrome x2

A

Growth hormone therapy - can counter short stature

Oestrogen replacement for development of secondary sexual characteristics at time of puberty

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is 47, XXY, incidence

A

Klinefelter Syndrome

1-2/1000 live born males

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Features of Klinefelter x5

A 
Infertility (most common presentation)
Hypogonadism 
Gynaecomastia 
Tall stature 
May have some educational and psychological problems but intelligence usually normal
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What increases incidence of autosomal recessive disorders

A

Consanguinity

Arab cultures this is more common

17
Q

Disorders which have trinucleotide repeat expansion mutations x5

A 
Fragile X 
Myotonic dystrophy 
Huntingtons disease 
Spinocerebellar ataxia
Friedreichs ataxia
18
Q

X-linked dominant inheritance disease

A

Hypophosphatemic (vitamin D-resistant) rickets

19
Q

What is Fragile X Syndrome? Incidence

A

Significant learning difficulties in males, x-linked recessive but also trinucleotide expansion
Incidence 1 in 4000

20
Q

Females and fragile x

A

Female carriers can have mild learning difficulties

21
Q

Number of repeats needed for symptoms in Fragile X

A

CGG trinucleotide needs more than 200 copies of repeat - this is caused by gene with full mutation

22
Q

Other clinical features of Fragile X in males

A

Macrocephaly
Macro-orchidism post puberty
Strabismus
Long face, large everted ears, prominent mandible and broad forehead
Mitral valve prolapse, joint laxity, scoliosis, autism and hyperactivity

23
Q

Syndromes involving imprinting

A

Prader-Willi syndrome - absence of functional paternal copy of region will develop PWS
Angelman - failure to inherit functional maternal copy leads to this rather than PWS
Same region

24
Q

Features of PWS x4

A 
Hypotonia
Developmental delay 
Hyperphagia 
Obesity 
Hypogonadism
25
Q

Features of Angelman syndrome x4

A

Severe cognitive impairment
Characteristic facial impairment
Ataxia
Epilepsy

26
Q

Definition of malformation

A

Primary structural abnormality occurring during development of tissue or organ

27
Q

Definition of deformation

A

Abnormal intrauterine mechanical force that distorts a normally formed structure - eg. due to oligohydramnios

28
Q

Definition of disruption

A

Destruction of fetal part which initially formed normally eg. amniotic membrane rupture may lead to amniotic bands which may cause limb reduction defects

29
Q

Definition of dysplasia

A

Abnormal cellular organisation or function of specific tissue types
eg. skeletal dysplasias

30
Q

What are single-system defects?

A

Single congenital malformations eg. spina bifida - which are often multifactorial in nature with fairly low recurrence risks

31
Q

What are sequence birth defects?

A

A pattern of multiple abnormalities occurring after one initiating defect
eg. Potter syndrome following from oligohydramnios

32
Q

What are association birth defects?

A

A group of malformations that occur together more often than expected by chance but in different combinations from case to case

33
Q

What are syndrome birth defects?

A

A particular set of multiple anomalies occurs repeatedly in a consistent pattern - common underlying causal mechanism

34
Q

Craniofacial appearance in Down’s syndrome

A 
Round face
Flat nasal bridge
Upslanted palpebral fissure
Epicanthic folds
Brushfield spots in iris
Small mouth and protruding tongue
Small ears
Flat occiput and third fontanelle
35
Q

GIT abnormalities in down syndrome

A

Duodenal atresia

Hirschsprungs disease

36
Q

Intellectual ability in Turners

A

Normal usually

37
Q

Features of Noonan syndrome

A

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis (Congenital heart defects)

38
Q

Features of Pierre-Robin syndrome

A

Micrognathia
Posterior displacement of the tongue (can cause upper airway obstruction)
Cleft palate

39
Q

Features of William’s syndrome

A 
Short stature
Learning difficulties 
Friendly, extrovert (highly verbal despite low IQ) 
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis

Paediatrics (16 decks)

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