Meaning

Uses

Method
SAMPLE PREPARATION
Cultured or uncultured lymphocytes are fixed onto a microscope slide. Slide is soaked in SSC Slide is dehydrated in alcohol Probe is added to the slide Probe area is sealed with a coverslip

DENATURATION
Heat slide to 800C for 5 minutes The double strands of sample and probe DNA break apart (denature)

HYBRIDISATION
Incubate slide overnight at 370C Specific probe region will bind to corresponding DNA region

POST HYBRIDISATION
Soak slides in SSC at 640C for 2 minutes - removes non specific, loosely bound DNA Rinse slides in alcohol Add Dapi/Antifade solution Seal with a coverslip

MICROSCOPY
Analyse metaphases for presence of control region Analyse relevant chromosome for probe presence/absence Count nuclei, noting deletion status

Temperature controlled slide processing system

Technologist

Slide

The relevant excitation filter is used depending on the specific wavelength of the fluorophore being used. This will excite the dye on the slide which will emit light that is filtered by the emission filter to give a homogeneous colour for each probe being examined

Aneuploidy FISH Analysis for Aneuploidy

Aneuploidy Fish Aneuploidy

Turner syndrome

Aneuploidy

Aneuploidy

Aneuploidy

Microdeletion Probes
Deletion Detected (2 green control signals; 1 red DNA syndrome probe signals)

No Deletion Found (2 green control signals; 2 red DNA syndrome probe signals)

22q11.2 Deletion Syndrome

Di George
Clinical Symptoms
include one or a combination of the following: congenital heart disease (particularly conotruncal malformations) palatal abnormalities [especially velopharyngeal insufficiency (VPI)] hypocalcemia immune deficiency learning difficulties characteristic facial features

del 22q11.2. Includes:

DiGeorge Syndrome (DGS) Velocardiofacial Syndrome (VCFS) Shprintzen Syndrome Conotruncal Anomaly Face Syndrome (CTAF) Caylor Cardiofacial Syndrome Autosomal Dominant Opitz G/BBB Syndrome

Diagnosis
FISH detection of a 22q11.2 deletion in the DiGeorge chromosomal region (DGCR). Cytogenetic studies for the presence of a translocation involving 22q11.2 (1%) Deletion 10p13-p14.

Mode of Inheritance

The 22q11.2 deletion is inherited in an autosomal dominant manner. About 93% of probands have a de novo deletion of 22q11.2. 7% inherited the 22q11.2 deletion from a parent. Both parents of an individual with 22q11.2 deletion should have FISH testing Germline mosaicism

22q11.2 Deletion Syndrome

Microdeletion 15q12

Microdeletion 15q12
Deletion on Paternal Chromosome 15 leads to PW syndrome. Deletion on Maternal chromosome 15 leads to Angelman Syndrome.

Microdeletion 15q12

Whole chromosome Paint USES:TRANSLOCATIONS

USES:TRANSLOCATIONS

USES:TRANSLOCATIONS

USES:TRANSLOCATIONS

Preimplantation Genetics

Preimplantation Genetics

Preimplantation Genetics

USES: ONCOLOGY

USES: ONCOLOGY

USES: ONCOLOGY

Software measures HER2 amplification in breast tumor. For each cell the software reports HER2 & CEP17 copy numbers and the HER2:CEP17 ratio.