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Y4R1 - Pediatrics I ๐Ÿ‘ถ > L2: Down Syndrome > Flashcards

L2: Down Syndrome Flashcards

1
Q

Epidemeology of Down Syndrome

A
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2
Q

Def & Results of Meiosis

A
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3
Q

Cytogenic Types of Down Syndrome

A
  • Complete Trisomy 21
  • Mosaic Down Syndrome
  • Translocation Down Syndrome
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4
Q

What Characterizes Complete Trisomy 21?

A

The Most Common

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5
Q

Complete Trisomy 21

  • Karyotyping
A

47,XX + 21

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6
Q

Incidence of Complete Trisomy 21

A
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7
Q

What Is Complete Trisomy 21 dependent on?

A

Maternal Age

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8
Q

Cause of Complete Trisomy 21

A
  • Non-disjunction of chromosome 21 during meiotic division (80 % in maternal meiosis I)
  • lt occurs during oogenesis more than spermatogenesis.
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9
Q

Risk of Recurrence in Complete Trisomy 21

A

1-2% regardless of maternal age

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10
Q

What Characterizes Mosaic Down Syndrome?

A

The Best Type

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11
Q

Mosaic Down Syndrome

  • Karyotyping
A

47, XX + 21 / 46, XX

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12
Q

Incidence of Mosaic Down Syndrome

A

1-2% of cases (more with maternal age)

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13
Q

Cause of Mosaic Down Syndrome

A
  • Non-disiunction occurring early in the division of the zygote, which results in two lines of cells (normal & trisomic)
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14
Q

Risk of Recurrence i Mosaic Down Syndrome

A

Same as Complete

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15
Q

Clinical manifestations in mosaic type are โ€ฆ.. than complete trisomy

A

Iess

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16
Q
  • ln mosaic type, non-disjunction occurs during โ€ฆ. division
  • while in complete type, it occurs during โ€ฆ. division
A
  • mitotic
  • Meiotic
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17
Q

What Characterizes Translocation Down Syndrome?

A

The Most Serious Type

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18
Q

Translocation Down Syndrome

  • Karyotyping
A

46,XX, t(14q, 21q)

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19
Q

Incidence of Translocation Down Syndrome

A

o lncidence 3- 4%
o Common in young age < 25 years

o Robertsonian translocation is the most common type

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20
Q

โ€ฆโ€ฆ. translocation is the most common type

A

Robertsonian

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21
Q

Cause of Translocation Down Syndrome

A
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22
Q

Risk of Recurrence in Translocation Down Syndrome

A
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23
Q

Types of inherited Translocation

A
  • D/21 Translocation
  • G/21 Translocation
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24
Q

D/21 Translocation

A
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25
Q
  • lf ovum contains translocation chromosome only, fertilization by normal sperm will Iead to โ€ฆ..
A

BTC โ€”> (45 chromosome but genome of 46 chromosomes)

26
Q
  • lf ovum contains translocation chromosome and normal chromosome 21, fertilization by normal sperm will lead to โ€ฆ..
A

Down syndrome (46 chromosome but genome of 47 chromosomes)

27
Q

G/21 Translocation

A
28
Q

Pathogenesis of Down Syndrome

A
29
Q

CP of Down Syndrome

A

A LOTTTTTTT

30
Q

Down Syndrome

  • Constant Features
A
  • Delayed physical growth
  • Delayed mental development (mild to moderate mentaI retardation)
  • Hypotonia
31
Q

CP of Down Syndrome

  • Head
A
32
Q

CP of Down Syndrome

  • Eyes
A
33
Q

CP of Down Syndrome

  • Nose
A

Small with depressed nasal bridge

34
Q

CP of Down Syndrome

  • Ears
A
  • Small
  • Low set & backward displacement
35
Q

CP of Down Syndrome

  • Neck
A

Short & Webbed

36
Q

CP of Down Syndrome

  • Tongue
A
  • Protruded (small oral cavity)
  • Fissured (scrotal)
37
Q

CP of Down Syndrome

  • Ribs
A

Unilateral or bilateral absence of one rib

38
Q

CP of Down Syndrome

  • Hands
A
39
Q

Def of Brachydactyly

A

Short + stocky

40
Q

Def of Clinodactyly

A

lncurved little fingers

  • Due to rudimentary or absent mid phalanx of
    little finger)ใ€‚
41
Q

Def of Simian Crease

A

Transverse palmer crease (partial or complete)

42
Q

CP of Down Syndrome

  • Feet
A
43
Q

CP of Down Syndrome

  • GIT & Abdomen
A
44
Q

CP of Down Syndrome

  • CoHD
A
45
Q

CP of Down Syndrome

  • Endocrine
A
46
Q

CP of Down Syndrome

  • Genitalia
A

Poorly developed

47
Q

CP of Down Syndrome

  • Immunity
A

Impaired cellular & humeral immunity

48
Q

Complications of Down Syndrome

A
49
Q

Most Common Causes of Death Down Syndrome

A
  • Accidents due to mental retardation
  • Sudden death due to arrhythmia
50
Q

Most Common Presentation of complication Down Syndrome

A
  • Heart failure due to congenital heart disease
  • Recurrent chest infections due to CHD, i immunity, most common presentation Hypotonia, aspiration & Decreased immunity (Predominantly T cell dysfunction, however, both T & B cells functions are affected)
51
Q

INVx for Down Syndrome

A
  • Prenatal
  • After Birth
52
Q

INVx for Down Syndrome

  • Prenatal Dx
A
53
Q

INVx for Down Syndrome

  • Prenatal Dx (1st Trimester)
A
54
Q

INVx for Down Syndrome

  • Prenatal Dx (2nd Trimester)
A
55
Q

Maternal Serum Screening in 2nd Trimester for Down Syndrome

A
56
Q

INVx for Down Syndrome

  • After Birth
A
57
Q

DDx of Down Syndrome

A
58
Q

Managment Plan for Down Syndrome

A
59
Q

Genetic Counseling for Down Syndrome

A
60
Q

Risk of Recurrencre in Down Syndrome

A

Y4R1 - Pediatrics I ๐Ÿ‘ถ (49 decks)

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