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MCD > Genetics > Flashcards

Genetics Flashcards

1
Q

Clinical features of Downs Syndrome

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2
Q

Define congenital defect

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3
Q

Subdivisions of congenital defects

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  • Single

- Multiple

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4
Q

Single congenital abnormalities

A
  • Malformation
  • Disruption
  • Deformation
  • Dysplasia
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5
Q

Multiple congenital abnormalities

A
  • Sequence
  • Syndrome
  • Association
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6
Q

Malformation

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7
Q

Disruption

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8
Q

Deformation

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9
Q

Dysplasia

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10
Q

Syndrome

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11
Q

Sequence

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12
Q

Association

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13
Q

Aneuploidy of Patau Syndrome

A

Trisomy 13

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14
Q

Aneuploidy of Edward’s Syndrome

A

Trisomy 18

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15
Q

Aneuploidy of Downs Syndrome

A

Trisomy 21

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16
Q

Clinical features of Downs Syndrome

A 
Newborn:
-hypotonia (floppy baby syndrome=decreased muscle tone)
-lethargy
-excess nuchal skin
Craniofacial:
-macroglossia (abnormally large tongue)
-small ears
-epicanthic folds (vertical fold of skin from the upper eyelid that covers the inner corner of the eye)
-brushfield spots (tiny white spots around the iris of the eye)
Cardiac:
-septal defects
-atrioventricular canal
Limb:
-single palmar crease
-sandal gap (wide gap between the first and second toes)
Other:
-short stature
-duodenal atresia
-low IQ but advanced social skills
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17
Q

Three different chromosome aberrations leading to Downs Syndrome

A

1) Trisomy 21 (in 95% of cases)
2) Translocation (Robertsonian specifically and in 4% of all cases)
3) Mosaicism (1% of cases=abnormal cell population in the body)

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18
Q

Clinical features of Patau’s Syndrome

A 
Brain problems:
-Holopresencephaly (structural malformation of the brain which often affects facial features giving a cleft lip and orbital hypotelorism)
-mental retardation
Cardiac problems:
-septal defects
-patent ductal arteriosus
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19
Q

Clinical features of Edward’s Syndrome

A 
Brain problems:
-mental retardation
Cardiac problems:
-septal defects
-patent ductal arteriosus 
Digestive tract defects:
-Oesophageal atresia (upper part does not connect with lower part and stomach)
-Omphalocele (infants intestine or other abdominal organs are outside the body because of a hole in the belly button area)
Kidney malformations:
-Horseshoe kidney
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20
Q

Example of autosomal dominant disorder

A

Huntington’s disease

21
Q

Example of autosomal recessive disorder

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Cystic fibrosis

22
Q

Example of X-linked recessive disorder

A

Haemophilia

23
Q

Prader-Willi Syndrome

A
  • Chromosome 15 imprinting disorder

- paternal chromosome loses function (P=paternal)

24
Q

Angelman Syndrome

A
  • Chromosome 15 imprinting disorder

- maternal chromosome loses function

25
Q

Clinical features of Prader-Willi Syndrome

A 
Brain problems:
-mental impairment (average IQ is 60-70)
-behavioural problems
Limb problems:
-muscle hypotonia
-short stature
-small hands and feet
Other:
-delayed/incomplete puberty
-infertility
-hyperphagia (abnormal appetite and excessive ingestion of food)=leads to marked obesity
26
Q

Clinical features of Angelman Syndrome

A
  • Seizures (seen in more than 80% of patients, seizures have an early onset of less than 3 years of age)
  • microcephaly (baby’s head circumference is a lot smalller than normal, abnormal head smallness compared to the size of the rest of the body)
  • severe developmental delay
  • speech impairment (poor or absent speech)
  • gait ataxia
  • behavioural uniqueness
27
Q

MELAS (mitochondrial disorder)

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28
Q

LHONS (mitochondrial disorder)

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29
Q

Aims of prenatal testing

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30
Q

Prenatal tests=Scanning

A
  • Ultrasound
  • Fetal MRI
  • Fetal cardiac scan (ultrasound)
31
Q

Prenatal tests=non-invasive

A
  • maternal serum screening

- cell free fetal DNA (NIPT)

32
Q

Prenatal tests=invasive

A
  • Chorionic villus sampling (CVS)

- Amniocentesis

33
Q

Reproductive options available

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34
Q

Egg and sperm donation

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35
Q

Adoption

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36
Q

Pre-implantation genetic diagnosis

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37
Q

Clinical features of MELAS

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38
Q

Clinical features of LHONS

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39
Q

Three parent babies

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40
Q

Explain mitochondrial inheritance

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41
Q

Phenylketonuria (PKU)

-inborn error of metabolism

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42
Q

Clinical features of PKU

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43
Q

Therapeutic management of PKU

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44
Q

Medium chain Acyl-CoA dehydrogenase deficiency (MCADD)

-inborn errors of metabolism

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45
Q

Clinical features of MCADD

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46
Q

Therapeutic management of MCADD

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47
Q

Oncogenes

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48
Q

Tumour Suppressor genes

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MCD (8 decks)

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