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Biochemistry FA > Down Syndrome > Flashcards

Down Syndrome Flashcards

0
Q

Down syndrome also called

A

Trisomy 21

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1
Q

Down syndrome frequency

A

1/700

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2
Q

Down syndrome associated diseases

A
  1. Duodenal atresia
  2. Hirschsprung disease
  3. Congenital heart disease (especially ostium primum-type ASD)
  4. Increased risk for ALL
  5. Increased risk for AML
  6. Increased risk for Alzheimer (>35)
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3
Q

Down syndrome phenotype

A
  1. Intellectual disability
  2. Flat facies
  3. Prominent epicanthal folds
  4. Gap between 1st 2 toes
  5. Brushfield spots
  6. Single palmar crease
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4
Q

Most common viable chromosomal disorder

A

Down syndrome

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5
Q

Most common cause of genetic intellectual disability

A

Down syndrome

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6
Q

Down syndrome/causes of trisomy

A
  1. 95% due to meiotic nomdisjunction of homologous chromosomes (increased with adv maternal age)
  2. 4% due to Robertson translocation (14 + 21)
  3. 1.% mosaicism (no maternal association)
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7
Q

Down syndrome maternal association frequencies

A

1: 25 if mother is over 45
1: 1500 if under 20

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8
Q

Second-trimester QUAD screen shows in Down syndrome

A
  1. Decreased a-fetoprotein
  2. Increased inhibin A
  3. Decreased estriol
  4. Increased β-hCG
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9
Q

First trimester findings in down syndrome

A
  1. Increased nuchal translucency (UL)
  2. Hypoplastic nasal bone (UL)
  3. Decreased serum PAPPA-A
  4. Increased β-hCG
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10
Q

Edwards syndrome also called

A

Trisomy 18

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11
Q

Edwards syndrome frequence

A

1/8000

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12
Q

Most common trisomy resulting in live birth

A

Down

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13
Q

2nd most common trisomy resulting in live birth

A

Edwards syndrome

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14
Q

Edwards syndrome age of death

A

Within first year

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15
Q

Edwards syndrome first trimester (Lab)

A

Decreased PAPPA-A and free β-hCG

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16
Q

Edward syndrome findings

A
  1. SEVERE intellectual disability
  2. Micrognathia (small jaw)
  3. Clenched hands with overlapping finbers
  4. Low set ears
  5. Congenital heart disease
  6. Prominent occiput
  7. Rocker-bottom feet
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17
Q

Second trimester QUAD screen show of Edward’s syndrome

A
  1. Decreased α-fetoprotein
  2. Decreased β-hCG
  3. Decreased estriol
  4. Decreased or normal inhibin A
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18
Q

Patau syndrome also called

A

Trisomy 13

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19
Q

Patau syndrome frequence

A

1/15000

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20
Q

First trimester pregnancy screen show for Platau syndrome

A
  1. Decreased free β-hCG
  2. Decreased PAPPA-A
  3. Increased nuchal translucency
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21
Q

Platau syndrome findings

A
  1. SEVERE intellectual finindings
  2. Rocker bottom feet
  3. Micropthalmia
  4. Microcephaly
  5. Cleft lip/Palate
  6. Holoprosencephaly
  7. Polydactyly
  8. Congenital heart disease
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22
Q

Robertsonian translocation-chromosomes involved

A

13, 14, 15, 21, 22

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23
Q

Robertsonian translocation process

A

The long arms of 2 acrocentric chromosomes fuse at the centromere and the 2 short arms are lost

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24
Q

Robertsonian tranloctiom phenotype

A

Balanced translocation-normal

Unbalanced translocation-miscarriage, stillbirth, chromosomal imbalance (eg Down, Patau syndrome)

25
Q

Cri-du-chat syndrome process

A

Congenital microdeletion of short arm of chromosome 5 (46,XX or XY, 5p-)

26
Q

Williams syndrome process

A

Congenital microdeletions of long arm of chromosome 7 (deleted region includes elastin gene)

27
Q

Cri-du-chat findings

A
  1. Microcephaly
  2. Intellectual disability (moderate to severe)
  3. VSD
  4. Epicanthal folds
  5. High-pitched crying/mewing
29
Q

Williams syndrome findings

A
  1. Distinctive “elfin” faces
  2. Intellectual disability
  3. Hypercalcemia (increased sensitivity to vit D)
  4. Well developed verbal skills
  5. Extreme friendliness with strangers
  6. Cardiovascular problems
30
Q

22q11 deletion is due to

A

Aberrant development of 3rd and 4th BRANCHIAL POUCHES

30
Q

DiGeorge syndrome

A

Thimic, parathyroid, cardiac defect

31
Q

22q11 deletion syndromes presentation

A

Variablae
1. Cleft palate 2. Abnormal facies 3. Thymic aplasia (T-cell deficiency) 4. cardiac defect 5. parathyroid aplasia (Hypercalcemia) 6. DiGeorge syndrome 7. Velocardiofacial syndrome

32
Q

Velocardiofacial syndrome

A

Palate, facial, cardiac defect

34
Q

Patau syndrome/age of death

A

Within the first year

35
Q

Dow syndrome - early onset Alzheimer - mechanism

A

ch21 codes for amyloid precursor protein

36
Q

cardiovascular problems of Williams syndrome

A

Supravalvular aortic stenosis

37
Q

22q11 deletion syndromes - cardiac defects

A
  1. Truncus arteriosis

2. Tetrallogy of Fallot

38
Q

Ch 3 - anomalies

39
Q

Ch 4 - anomalies

A

ADPKD (PKD2)
achondroplasia
Huntington

40
Q

Ch 6 - anomalies

A

Hemochromatosis

41
Q

Ch 7 - anomalies

A

Williams syndrome

CF

42
Q

Ch 9 - anomalies

A

Friedreich ataxia

43
Q

Ch 11 - anomalies

A

Wilms tumor

β-globulin defects (sickle, β th)

44
Q

Ch 13 - anomalies

A

Pataw syndrome
Wilson disease
RB (RB1)
BRCA2

45
Q

Ch 15 - anomalies

A

Prader-Willi syndrome
Angelman syndrome
Marfan

46
Q

Ch 16 - anomalies

A

ADPKD (PKD1)

α-globulin gene defects

47
Q

Ch 17 - anomalies

48
Q

Ch 18 - anomalies

A

Edwards syndrome

49
Q

Ch 21 - anomalies

A

Down syndrome

50
Q

Ch 22 - anomalies

A

NF2

Di George syndrome (22q11)

51
Q

Ch 5 - anomalies

A

Cri-du-chat syndrome

FAP

52
Q

BRCA ch?

A

BRCA 1 –> 17

BRCA 2 –> 13

53
Q

Neurofibromatosis genes - ch?

A

NF1 –> 17

NF2 –> 22

54
Q

α + β glubilins - ch

A

α –> 16

β –> 11

55
Q

Retinoblastoma - ch

56
Q

heterochromatosis - ch

57
Q

Friedreich ataxia - ch

58
Q

CF - ch

FAP - ch

A

CF 7

FAP 5

59
Q

achondroplasia - ch

60
Q

Angelman syndrome

Biochemistry FA (16 decks)

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