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    Lab 2

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    fgnjdgn

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    Lab 2

    Uploaded by

    fgnjdgn
    66 views22 pages

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    Copyright:

    Attribution Non-Commercial (BY-NC)
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    66 views22 pages

    Lab 2

    Uploaded by

    fgnjdgn

    Copyright:

    Attribution Non-Commercial (BY-NC)
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    You are on page 1of 22

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    Nomenclatura Del Cariotipo Normal y con Alteraciones


    Dr. Ral Cesar Alegra Guerrero
    Profesor Asociado FMH-UNMSM Ctedra Embriologa Humana y Gentica
    03 de setiembre 2011

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    Nomenclatura Del Cariotipo Normal


    46,XX 46,XY Mujer normal Varn normal

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    Nomenclatura Del Cariotipo Con Alteraciones

    47,Y,t(X;13)(q27;q12),inv(10)(p13q22),+21

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    Nomenclatura: Principios Generales


    47,X,t(X;13)(q27;q12),inv(10)(p13q22),+21

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    Nomenclatura: Principios Generales


    49,X,inv(X)(p21q26),+3,inv(3)(q21q26),+7,+10,-20,del(20)(q11),+21

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    Nomenclatura: Principios Generales


    50,XX,+1,+del(1)(p13),+dup(1)(q21q32),+inv(1)(p31q41),+8,r(10)(p12q25),-21

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    Nomenclatura de los Cariotipos con Alteraciones De Nmero

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    71,XXX,+8,+10

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    Un cariotipo hipotetraploide con tres copias de cromosomas 1, 3, 5, y 21, cinco copias de cromosoma 8, y cuatro copias de todos los cromosomas.

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    Nomenclatura de los Cariotipos con Alteraciones Estructurales


    69,XXX,del(7)(p11)

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    46,XX,inv(3)(q21q26)

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    Tres cromosomas 7 normales y uno con una delecin del brazo corto.

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    46,XY,der(1)t(1;3)(p22;q13)

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    El cromosoma der(10) remplaza a uno de los cromosomas 10 normal; el cromosoma 10 homlogo esta perdido. En esta situacin, el cromosoma 10 perdido debe ser, por supuesto, indicado.

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    Cromosoma derivativo

    46.XX,der(1)t(1;3)(p22;q13) 46.XX,der(1)t(1qter1p22::3q133qter)
    El cromosoma derivativo 1 ha resultado de una translocacin del segmento distal del cromosoma 3, desde 3q13 hasta qter, al brazo corto del cromosoma 1 en la banda 1p22. El der(1) reemplaza al cromosoma 1 normal y no hay necesidad de indicar la prdida de este cromosoma. En este caso, es obvio que hay dos cromosomas 3 normal y que el cariotipo est desbalanceado por la prdida del segmento 1p22-pter y la ganancia de 3q13-qter. La descripcin del cromosoma 1 se inicia con el brazo largo, al no existir el brazo corto normal.

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    El cromosoma derivativo 1 reemplaza al cromosoma 1 normal y hay un solo cromosoma 3 normal.

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    Ej. Translocacin recproca

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    Gracias
    http://masabadell.wordpress.com/2008/11/12/%C2%BFcuantoscromosomas-tenemos/

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