DiGeorge II(10p14) / SE 10 probe hybridized to DiGeorge II patient material showing a deletion of the DGSII region at 10p14 (1R2G). Image kindly provided by Azzedine Aboura, Hôpital Robert Debré Paris.
IVD DiGeorge II/SE 10
DiGeorge and VCFS present many clinical problems and are frequently associated with deletions within 22q11.2, but a number of cases have no detectable molecular defect of this region. A number of single case reports with deletions of 10p suggest genetic heterogeneity of DiGeorge syndrome. FISH analysis demonstrates that these patients have overlapping deletions at the 10p13/10p14 boundary. The shortest region of deletion overlap (SRO) has been identified in a 1 cM interval including makers D10S547 and D10S585. The DiGeorge II region probe is optimized to detect copy numbers of the DGSII at 10p14. The chromosome 10 satellite enumeration (SE 10) FISH probe at D10Z1 is included to facilitate chromosome identification.
References: Monaco et al, 1991, Am. J. Med. Genet., 39; 215-216. Schuffenhauer et al, 1998, Eur. J. Hum. Genet., 6; 213-225.