Wolf-Hirschhorn WHSC1 (4p16) / SE 4 probe hybridized to Wolf-Hirschhorn patient material showing a deletion of the WHSC1 gene region at 4p16 (1R2G). Image kindly provided by Prof. Zollino, Rome.
IVD WHSC1/SE 4
Wolf-Hirschhorn Syndrome (WHS) affected individuals have prenatal-onset growth deficiency followed by postnatal growth retardation and hypotonia with muscle under-development. Developmental delay/mental retardation of variable degree is present in all. FISH analysis using a WHSC1 specific FISH probe for chromosomal locus 4p16.3 detects more than 95% of deletions in WHS. The Wolf-Hirschhorn region probe is optimized to detect copy numbers of the Wolf-Hirschhorn critical region at 4p16. The chromosome 4 Satellite Enumeration (SE 4) FISH probe at D4Z1 is included to facilitate chromosome identification.
References: Gandelman et al, 1992, Am. J. Hum. Genet., 51; 571-578. Wright et al, 1997, Hum. Mol. Genet., 6; 317-324.