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 |
