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Pædiatri - en illustreret lærebog > 21: Genetik og syndromer > Flashcards

21: Genetik og syndromer Flashcards

1
Q

Kromosom- og DNA-analyser

A

p. 416

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2
Q

Konventionel G-båndskaryotypering

A

p. 416

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3
Q

MLPA

A

p. 416

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4
Q

Mutationsanalyse

A

p. 416

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5
Q

Molekylær karyotypering (array-CGH)

A

p. 416

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6
Q

FISH-analyse

A

p. 417

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7
Q

Koblingsanalyser

A

p. 417

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8
Q

Kromosomsygdomme

A

p. 417

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9
Q

Downs syndrom (trisomi 21)

A

p. 417

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10
Q

Meiotisk non-disjunction

A

p. 418

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11
Q

Translokation

A

p. 419

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12
Q

Mosaicisme

A

p. 420

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13
Q

Edwards syndrom (trisomi 18) og Pataus syndrom (trisomi 13)

A

p. 420

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14
Q

Turners syndrom (X,45)

A

p. 420
45X, 1:6500
Lymfødem: hænder fødder neonatalt, kan persistere
Lille højde
Vingehals
Cubitus valgus
Hjertemisdannelser - især coarctatio
Mgl eller minimal udvikling af sek. kønskarakterer (uden beh)
Dysgenesi af ovarier - IVF med ægdonation mulig
Hypotyreose
Nyremisdannelser
Pigmenterede nævi
Recidiverende otitis media
Intellektuel funktion ofte normal, milde specifikke indlæringsvanskeligheder kan forekomme

Beh.:

  • væksthormon
  • østrogensubstitution -> udvikle sek. kønskarakterer
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15
Q

Klinefelters syndrom (47,XXY)

A 
p. 421
47XXY, 1-2:1000
Infertilitet
Hypogonadisme med små testes
Normal eller nærnormal pubertetsudvikling (nogle har god effekt af testosteronbeh)
Gynækomasti i teenageårene
Stor højde
Intelligens ofte normal, kan være specifikke indlæringsvanskeligheder og psyk problemer
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16
Q

Reciprok translokation

17
Q

Deletioner

18
Q

Mendelsk arvegang

19
Q

Autosomal dominant

20
Q

Nedsat penetrans

21
Q

Manglende familiær anamnese med sygdommen

22
Q

Homozygoti

23
Q

Autosomal recessiv

24
Q

Konsangvinitet

25
Q

X-bundet recessiv

26
Q

X-bundet dominant

27
Q

Y-bundet arvegang

28
Q

Trinukleotid repeat-sygdomme

29
Q

Fragilt X-syndrom

A 
p. 426
Mental retardering (IQ 20-80)
Makrocefali
Store testes efter puberteten
Karakteristiske ansigtstræk
Mitralinsufficiens
Hypermobilitet
Skoliose
Autisme
Hyperaktivitet

Mental retardering hos nogle kvindelige bærere

30
Q

Mitokondriel arvegang

31
Q

Genomisk imprinting og uniparentel disomi

A 
p. 428
Prader-Willi: mangler Paternel kopi
- hypotoni
- mental retardering
- adipositas
AngelMan: mangler Maternel kopi
- mental retardering
- ataksi
- mikrocefali
- karakteristiske ansigtstræk: markant kæbe og dybtliggende øjne
- epilepsi
32
Q

Polygen eller multifaktoriel arvegang

33
Q

Præsymptomatisk testning

34
Q

Genterapi

35
Q

Medfødte misdannelser og dysmorfologi

36
Q

Genetisk rådgivning

Pædiatri - en illustreret lærebog (28 decks)

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