Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region.

摘要: Cat eye syndrome (CES) is typically associated with a supernumerary bisatellited marker chromosome (inv dup 22pter-22q11.2) resulting in four copies of this region. We describe an individual showing the inheritance minute double ring 22, which resulted expression all cardinal features CES. The size was determined by DNA dosage analysis and FISH for five loci mapping to 22q11.2. probes D22S9, D22S43, ATP6E were present copies, whereas D22S57 D22S181 two copies. This finding further delineates distal boundary critical region CES, being most duplicated locus identified. phenotypically normal father grandfather patient each had small demonstrated three ATP6E. Although have been reported other cases CES features, it possible that presence leads greater susceptibility.