Cytogenetics - FISH, Constitutional Disorders




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Fluorescence In-Situ Hybridization (FISH), Constitutional Disorders (PDF version)
Constitutional Disorders	Cytogenetic Locus	Probe Name
1p- Syndrome	1p36	p58
Ambiguous Genitalia	Xcen/Ycen	DXZ1/DYZ3
Aneuploidy Panel	Xcen/Ycen, 13q14, 18cen, 21q22.13-q22.2	Aneuploidy Probe Set
Angelman Syndrome	15q11.2q13	UBE3A
Cri du chat Syndrome	5p15.2	D5S23
DiGeorge Syndrome	22q11.2	22q11.2 probe set
Male sex determination	Yp11.3	SRY
Miller Dieker Syndrome	17p13.3	LIS1
Prader-Willi Syndrome	15q11.2q13	SNRPN
Shprintzen Syndrome	22q11.2	22q11.2 probe set
Smith-Magenis Syndrome	17p11.2	FLII
Telomere Panel	Subtelomeric Sequences	Telomere probe set
Trisomy Panel	Xcen/Ycen, 13q14, 18cen, 21q22.13-q22.2	Aneuploidy Probe Set
Turner Syndrome	Xcen, Ycen	DXZ1, DYZ3
Velocardiofacial Syndrome	22q11.2	22q11.2 probe set
Williams Syndrome	7q11.23	7q11.23 probe set
Wolf-Hirschhorn Syndrome	4p16.3	D4S96