Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)

摘要: DiGeorge syndrome (DGS) is a developmental field defect, characterised by absent/hypoplastic thymus and parathyroid, conotruncal heart defects, with haploinsufficiency loci at 22q (DGS1) 10p (DGS2). We performed fluorescence in situ hybridisations (FISH) polymerase chain reaction (PCR) analyses 12 patients deletions, nine of them features DGS, familial translocation 10p;14q associated midline defects. The critical DGS2 region defined two DGS patients, maps within 1 cM interval including D10S547 D10S585. other seven are hemizygous for both loci. breakpoint the reciprocal distance least distal to region. Interstitial terminal deletions described range 10–50 enable tentative mapping ptosis hearing loss, which not part clinical spectrum.