• Cytogenetic FISH Tests

    The Cytogenetics Laboratory at Cincinnati Children's Hospital Medical Center provides a complete listing of FISH probes available for microdeletion syndromes:

    Chromosome

    Locus / Loci

    Related Syndrome

    1

    1p36/1ptel/1q25

    1p36 Deletion Syndrome

    4

    4p16.1 / 4p11-q11

    Wolf-Hirschhorn Syndrome

    5

    5q31 / 5p15.2

    Cri du Chat

    5

    5q35

    Sotos Syndrome

    7

    7q11.23 / 7q31

    Williams Syndrome

    10

    10q23 / 10p11.1-q11.1

    PTEN

    13

    13q14

    Retinoblastoma region (~10% are deletions)

    13

    13q14

    Trisomy 13

    15

    15q11-13 / 15q22 / 15p11.2

    Prader-Willi / Angelman Syndrome

    17

    17p11.2 / 17q21

    Smith-Magenis

    17

    17p13.3 / 17q21.1

    Miller-Dieker

    18

    18p11.1q11.1

    Trisomy 18

    21

    21q22.13-q22.2

    Trisomy 21

    22

    22q11.2 / 22q13

    VCF / DiGeorge Region

    X

    Xp22.3 / Xp11.1-q11.1

    X-linked Ichthyosis / Steroid Sulfatase Deficiency

    X

    Xp22.3 / Xp11.1-q11.1

    Kallman Syndrome

    X/Y

    Yp11.3 / Xp11.1q11.1

    Sex determination / Ambiguous genitalia

    X/Y (Centromeres)

    Xp11.1q11.1 / Yp11.1q11.1

    Sex determination / Ambiguous genitalia

    Prenatal

    13, 18, 21, X, Y

    Prenatal FISH for trisomy and sex chromosome anomalies

    Subtelomeres

    All chromosome subtelomeres

    Subtelomere analysis