8- Genetik Hastalıklar Flashcards

1
Q

Spontan abortusun en sık kromozomal nedeni

A

16 Trizomi

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2
Q

Down sendromnda sıklığı artan AML tipi

A

AML M7

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3
Q

Trizomi 18 özelliği

A

Edwards sendr

  • 3-4. parmakların üst üste binmesi
  • sandal ayak
  • prenatal gelişme geriliği
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4
Q

Trizomi 13 özelliği

A

Patau sendr

  • mikrosefali
  • mikroftalmi
  • yarık damak dudak
  • cyclops
  • holoprosensefali
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5
Q

Erkekte en sık hipogonadzm nedeni

A

47 XXY Klinefelter sendrmu

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6
Q

Turner fenotipik özelliği

A
Ayak-el sırtı ödemi
Primer amenore
Kistik higroma
Kubitis valgus
Meme başları ayrık
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7
Q

En sık mental retardasyon nedeni (2)

A
1 Down (trizomi 21)
2 frajil X sendr
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8
Q

Frajil X sendromn genetik özelliği

A

Trinükleotit gen mutasyonu

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9
Q

Frajil X fenotipik özelliği

A

Katlanmış ve büyük kulaklar

Makro-orşidizm (büyük testis)

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10
Q

Trinükleotit gen mutasyonu yapan hastalıklar

A

Frajil X
Miyotonik distrofi
Huntington koresi
Friederich ataxi

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11
Q

Prader Willi özellikleri

A

Mental retarde
Obezite
Babadan geçen alel bozuk

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12
Q

Angelman özellikleri

A

(gülen kukla sendromu)
Mental retarde
Sevimli aşırı yerli-yersiz gülme
Anneden gecen alel bozuk

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13
Q

Genomik imprinting olan sendromlar

A

Prader-Willi

Angelman

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14
Q

Lizozomal depo hastalıkları (7)

A
Tay-Sachs ve Sandhoff
Nieman-Pick
Gaucher
Fabry
Krabbe
Farber
Mukopolisakkaridozlar
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