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Útgefið gæðaskjal: Yfirlit
Skjalnúmer: Resd-089
Útg.dags.: 01/29/2021
Útgáfa: 5.0
2.02.01.33 Listi - FISH - örúrfellingar

    Eftirfarandi listi er ekki tæmandi.
    SjúkdómurÞreifari / kontrólLitningur / kontról
    Angelman/Prader WilliGABRB3/CEN1515q11-q13/ 15p11.2
    Cri du chat5p15.25p15.2
    DiGeorge/VCFSTUPLE1(HIRA)/ARSA22q11.2/22q13
    Elastin-WilliamsELN,LIMK1,D7S613/ D7S486,D7S5227q11.23/ 7q31
    KallmanKAL/DXZ1Xp22.3/ Xcen
    kyn, SRY-geniðSRY(SO)/CEPX(SG) Yp11.3
    Miller DiekerLSI 1/RARA17p13.3/ 17q21.1
    Prader Willi/AngelmanD15S10/PML15q11-q12/ 15q22
    Prader Willi/AngelmanSNRPN/PML/cep1515q11-13/ 15q22/15p11.2
    Smith-MagenisSMS/RARA17p11.2/ 17q21
    Sotos NSD1/D5S23,D5S7215q35/ 5p15.2
    Wolf HirschornWHS/CEP44p16.3/ 4p11-q11
    13q3413q34
    BCL7A 12q24,31
    CKS1B 1q21,3
    CRKL22q11.21
    DXS1140/DXZ1Xp22.3/ Xcen
    FOXG1 14q12
    HiP1 7q11,23
    NDE1-MYH1116p13.1
    NF2 22q12,2
    SNP-CORO1A 16p11,2
    XistXq13.2
    STSXp22.3
    ChrNA715q13.3
    TRPM115q13.3
    ACACA17q12
    DMDXp21.2-p21.1
    OTCXp11.4
    PAX611p13
    JAG120p12.2
    PRKAB2-CHD1L1q21
    MNX17q36.3
    CSF1R/D5S23,D5S7215q33-q34/5p15.2
    ABL2 1q25.2
    TAS2R37q34
    CNTNAP2 7q35-q36.1
    GIMAP27q36.1
    Xp11.23-p11.22
    Xp22.12 RP11-92A18
    1q43 RPCI-11 930D19
    1q44 RPCI-11 462C5
    2q13 NPHP1
    1p34 RPCI-11 15J6
    Xp11.22 RP-11 662J23
    Xp11.22 RP-11 16A23

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