STS (Xp22) / KAL1 (Xp22) / SE X Triple-Color probe hybridized to male patient material showing a deletion of the STS gene region (1R1B). Material kindly provided by Necker hospital, Paris.
IVD STS/KAL1/SE X
STS (Steroid Sulfatase) disease is a chromosome X-linked disorder associated with a microdeletion of the gene within the Xp22.3 region. Deletion of the steroid sulfatase gene has been detected in individuals with recessive X-linked ichtyosis, the disease been considered one of the most frequent human enzyme deficient disorders. KAL1 (Kallmann syndrome interval gene-1) maps to the Kallmann syndrome critical region on the distal short arm of the human X chromosome. Individuals with Kallmann syndrome suffers of hypogonadotropic hypogonadism and anosmia, with clinical features of variable phenotype. It affects approximately 1 in 8000 males and 1 in 40000 females. The STS (Xp22) region probe is optimized to detect copy numbers of the STS gene region at Xp22. The KAL1 (Xp 22) region probe is optimized to detect copy numbers of the KAL1 gene region at Xp22. The Chromosome X Satellite Enumeration (SE X) FISH probe at DXZ1 is included to facilitate chromosome identification.
References: Alper in et al, 1997, J. Biol. Chem., 272; 20756-20763. Meroni et al, 1996, Hum. Mol. Genet., 5; 423-431.