Brainscape's Knowledge GenomeTM

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


See full index

Paeds > Genetics > Flashcards

Genetics Flashcards

1
Q

What is Patau’s Syndrome?

A

Trisomy 13 (third extra non-sex chromosome 13)

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

What are the S/S of Patau’s Syndrome?

A
  • Microcephaly
  • Microphthalmia (small eyes) / other eye defects
  • Cleft lip/palate
  • Polydactyly
  • Scalp lesions
  • Omphalocele / gastroschisis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What are the investigations of Patau’s Syndrome?

A
  • USS analysis in 2nd trimester
  • Chromosomal analysis from amniocentesis/cffDNA (NIPT)
  • Karyotyping

> No other specific tests for dx

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

What is the management of Patau’s Syndrome?

A

Palliative care: (most babies will die within first few days)

  • 80% die in the first month of life
  • 90% by 1y

+ Counselling and support

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

What are the complications of Patau’s Syndrome?

A
  • Kidney defects
  • Spinal defects
  • Infections
  • Intellectual disability
  • Motor disorder
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is Edward’s Syndrome?

A

Trisomy 18
(third extra non-sex chromosome 18)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are the S/S of Edward’s Syndrome?

A
  • Micrognathia / small mouth/chin
  • Low-set ears
  • Rocker bottom feet
  • Overlapping fingers
  • Intellectual disability
  • Omphalocele / gastroschisis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are the investigations for Edward’s Syndrome?

A
  • USS analysis in 2nd trimester
  • Chromosomal analysis from amniocentesis/cffDNA (NIPT)
  • Karyotyping

> No other specific tests for dx

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is the management of Edward’s Syndrome?

A

Many will die in infancy but prolonged survival is possible

  • MDT approach (OT and PT, nursing care)
  • NG tube
  • Counselling and parental support
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What are the complications of Edward’s Syndrome?

A
  • Cardiac abnormalities
  • Feeding difficulties
  • Aspiration pneumonia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is Noonan’s Syndrome?

A
  • Autosomal dominant
  • Chromosome 12
  • Normal karyotype (affects M and F)
  • Penetrance varies greatly (from lethal prenatally to minimal morbidity)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What are the S/S of Noonan’s Syndrome?

A
  • Webbed neck
  • Pectus excavatum
  • Short stature
  • Pulmonary stenosis
  • Trident hairline
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What are the investigations for Noonan’s Syndrome?

A

1st line:

  • ECG (wide QRS, giant Q waves, left axis deviation)
  • Echo (CHDs)

Consider:

  • Bloods: FBC, coagulation profile
  • Molecular genetic testing
  • Abdominal USS (splenomegaly)
  • Renal USS (malformations)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the management of Noonan’s Syndrome?

A
  • Correction of CHDs
  • Recombinant growth hormone
  • Refer to urology for cryptorchidism
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are the complications of Noonan’s Syndrome?

A

Cardiac abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is Prader-Willi syndrome?

A

Imprinting disorder affecting paternal copy of chromosome 15 (lack of PWS region on chr15)

  • Lack of paternal PWS region on chr15 = PWS
  • Lack of maternal PWS region of chr15 = Angelman syndrome (cognitive impairment, ataxia, epilepsy, abnormal facial appearance)
17
Q

What are the S/S of Prader-Willi syndrome?

A
  • Hypotonia
  • Hypogonadism
  • Obesity
  • Almond-shaped eyes
  • Hyperphagia
  • Flat nasal bridge and upturned nose
  • Learning disability
18
Q

What are the investigations for Prader-Willi syndrome?

A
  • USS analysis in 2nd trimester
  • Chromosomal analysis from amniocentesis/cffDNA (NIPT)
  • Karyotyping
19
Q

What is the management of Prader-Willi syndrome?

A
  • Management of feeding and obesity (e.g. lock cupboard)
  • Cryptorchidism surgery
  • Hormone treatment (GH supplements if evidence of growth failure)
  • Psychological – CBT, SSRIs
20
Q

What are the complications of Prader-Willi syndrome?

A
  • Obesity
  • T2DM
  • Metabolic syndrome
  • Psychosis
21
Q

What is Turner’s Syndrome?

A

Genetic defect in females resulting from the complete or partial absence of an X chromosome (45X)

22
Q

What cardiac defects are associated with Turner’s Syndrome?

A
  • Bicuspid aortic valve (ESM)
  • Coarctation of the aorta
23
Q

What are the S/S of Turner’s Syndrome?

A
  • Neonatal lymphoedema of hands/feet/cutis laxa
  • Neck webbing
  • Wide carrying angle
  • Broad chest with widely spaced nipples (shield chest)
  • High pigmented naevi
  • Hypoplastic nails
  • Short fourth metacarpal
  • Signs of ovarian failure - amenorrhoea, infertility
  • Failure of breast development (normal pubic hair development)
  • Short stature
  • Congenital malformations: horseshoe kidneys, ovarian dysgenesis
24
Q

What are the investigations for Turner’s Syndrome?

A

Antenatal:

  • Amniocentesis or CVS and karyotype analysis if dx suspected (nuchal cystic hygroma / horseshoe kidney / left-sided cardiac abnormalities / non-immune foetal hydrops)

Chromosomal studies:

  • Karyotype confirmation, confirmation of presence of possible Y chromosomal material (Y-centromeric probe), differentiation from Noonan syndrome (phenotypically very similar)

Bloods:

  • Increased LH and FSH confirm ovarian failure
25
Q

What is the management of Turner’s Syndrome?

A
  • Surgical treatment: CHD correction, grommets, plastic surgery (neck webbing), removal of gonad if present
  • Hormonal treatment: GH therapy, oestrogen replacement therapy (12-15yrs)
26
Q

What are the complications of Turner’s Syndrome?

A
  • Infertility
  • Short
  • Psychological effects
27
Q

What is Kleinfelter’s Syndrome?

A

Genetic defect of the sex chromosomes in males leading to a karyotype of 47XXY
(extra X Chr from either mother or father)

28
Q

What are the S/S of Kleinfelter’s Syndrome?

A
  • Normal appearance and normal IQ
  • Infertility
  • Hypogonadism
  • Gynaecomastia in adolescence
  • Tall stature
  • May have learning difficulties / psychological problems
29
Q

What is the management of Kleinfelter’s Syndrome?

A
  • Conservative: SALT, educational and behavioural therapy, OT, PT, psychological therapy
  • Medical: fertility tx, testosterone replacement or ICSI
  • Surgery: breast reduction
30
Q

What are the complications of Kleinfelter’s Syndrome?

A
  • Increased risk of T2DM
  • CVD
  • Hypothyroidism
  • Anxiety
  • Male breast cancer
31
Q

What is Down Syndrome?

A

Trisomy 21
(third extra non-sex chromosome 21)

32
Q

What are the S/S of Down Syndrome?

A
  • General: neonatal hypotonia, short stature
  • Developmental: mild-moderate learning disability (with social skills exceeding other intellectual functions)
  • Craniofacial: microcephaly, brachycephaly, round face, epicanthic folds, upward sloping palpebral fissures, protruding tongue, flat nasal bridge, small ears, excess skin at back of neck, atlantoaxial instability
  • Eyes: strabismus, nystagmus, Brushfield spots on iris, cataracts
  • Limbs: fifth finger clinodactyly, single palmar crease, wide gap between first and second toes (saddle toes, hyperflexible joints in infants
  • CVS: murmurs dependant on CHD, arrythmias, signs of HF
  • GI: constipation
33
Q

What are the investigations for Down Syndrome?

A

Antenatal screening:

  • Maternal age combined with the triple test on maternal serum: AFP decreased, unconjugated oestriol decreased and b-hCG increased.

Confirmation of dx:

  • Prenatal examination of foetal cells from amniocentesis or CVS, postnatal chromosomal analysis.

Screening for complications:

  • Echo, TFTs, hearing and vision tests.
34
Q

What is the management of Down Syndrome?

A
  • MDT approach: parental education and support, genetic counselling, IQ testing with appropriate educational input, regular follow-up
  • Medical: abx in recurrent resp infections, thyroid hormone for hypothyroidism
  • Surgical: CHDs, oesophageal/duodenal atresia
35
Q

What are the complications of Down Syndrome?

A
  • Decreased fertility
  • Increased risk of leukaemia, transient myeloproliferative disorder
  • Hypothyroidism
  • Seizures
  • Atlanto-axial instability
  • Increased incidence of AD by 40yrs

Paeds (18 decks)

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