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
|