XL Wolf-Hirschhon
XL Wolf-Hirschhorn detects deletions in the short arm of chromosome 4. The orange labeled probe hybridizes to the NSD2 (WHSC1) locus at 4p16.3. The green labeled probe hybridizes to a specific locus at 4q12 and functions as a reference probe.
The Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder characterized by a range of problems including the minimal diagnostic criteria: distinctive facial features (Greek warrior helmet appearance), congenital hypotonia, intellectual disabilities, delayed development and seizures. The association of partial 4p16 deletions with Wolf-Hirschhorn syndrome (WHS) was first described by Cooper and Hirschhorn in 1961. Most 4p16 deletions in WHS occur de novo, only in the minority of cases the rearranged chromosome is inherited. WHS is a contiguous gene syndrome associated with haploinsufficiency of several closely linked genes. The severity of clinical manifestation depends on the amount of genetic material affected. Two WHS critical regions (WHSCR) have been identified. The classical WHSCR1, spanning 165 kb on chromosomal location 4p16.3, includes the genes NSD2 (nuclear receptor binding SET domain protein 2) and NELFA (negative elongation factor complex member A). WHSCR2 was defined based on the identification of patients with atypical forms of WHS, showing no deletion of WHSCR1. WHSCR2 is located distally to WHSCR1 partially including the gene NSD2, but excluding NELFA.
Cena za kus: pro registrované
The Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder characterized by a range of problems including the minimal diagnostic criteria: distinctive facial features (Greek warrior helmet appearance), congenital hypotonia, intellectual disabilities, delayed development and seizures. The association of partial 4p16 deletions with Wolf-Hirschhorn syndrome (WHS) was first described by Cooper and Hirschhorn in 1961. Most 4p16 deletions in WHS occur de novo, only in the minority of cases the rearranged chromosome is inherited. WHS is a contiguous gene syndrome associated with haploinsufficiency of several closely linked genes. The severity of clinical manifestation depends on the amount of genetic material affected. Two WHS critical regions (WHSCR) have been identified. The classical WHSCR1, spanning 165 kb on chromosomal location 4p16.3, includes the genes NSD2 (nuclear receptor binding SET domain protein 2) and NELFA (negative elongation factor complex member A). WHSCR2 was defined based on the identification of patients with atypical forms of WHS, showing no deletion of WHSCR1. WHSCR2 is located distally to WHSCR1 partially including the gene NSD2, but excluding NELFA.
Cena za kus: pro registrované
