Smith-Magenis/Miller-Dieker/ILS Probe Combination

Smith-Magenis: Green Fluorophore
Miller-Dieker/Isolated Lissencephaly Sequence: Red Fluorophore

Smith-Magenis syndrome (SMS), caused by an interstitial deletion of 5 Mb of band 17p11.2, is a multiple congenital anomaly syndrome characterised by mental retardation, neuro-behavioural abnormalities, sleep disturbances, short stature, minor craniofacial and skeletal anomalies, congenital heart defects and renal anomalies. The FLI gene, in the critical region, is deleted in SMS patients.

Miller-Dieker syndrome (MDS), caused by an interstitial deletion of physically contiguous genes in 17p13.3, is characterised by classical lissencephaly, characteristic facial appearance and other birth defects. Isolated lissencephaly sequence (ILS) consists of classical lissencephaly alone and in 40% of patients the same region is deleted. MDS patients always show deletions of the candidate gene LIS1.

The Smith-Magenis/Miller-Dieker/ILS probe combination targets the FLI gene and the LIS1 gene. The Smith-Magenis probe is directly labelled with a green fluorophore (FITC spectrum) and the Miller-Dieker/ILS probe with a red fluorophore (Texas Red spectrum).