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 | Cowden / BRR region |
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 |
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 |
