Maladies Flashcards

1
Q

Lupus

A

MAI qui touche les organes du tissu conjonctif (IC, arythmies, inflam reins, tbl respi, érythème…)

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2
Q

Sd de Di Georges

A

délétion 22q11.2, déficit immunitaire congénital

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3
Q

Sd de Williams Beuren

A

délétion 7q11.23

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4
Q

Trisomie 21

A

Sd de Down

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5
Q

Trisomie 13

A

Sd de Pateau

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6
Q

Trisomie 18

A

Sd d’Edwards

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7
Q

Trisomie X

A

XXX

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8
Q

Jacob

A

XYY ou double Y

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9
Q

Sd de Turner

A

45, X

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10
Q

Klinefelter

A

XXY

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11
Q

Maladie de Vaquez

A

polyglobulie avec augmentation de l’hématocrite + VGM

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12
Q

Maladie de Waldenstrom

A

cancer hémato avec lymphoplasmocytes dans MO + production Ig monoclonale

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