Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

Key pointsN We have conducted detailed dosimetric analysis in 20 patients with monosomy 2q37.N No common breakpoints were found, indicating that 2q37 rearrangements are likely not mediated by duplicated low copy repeats.N The minimum deleted region in patients with char- acteristic facial dysmorphism and Albright hereditary osteodystrophy (AHO)-like brachymetaphalangism has been narrowed to approximately 3 Mb.N For the first time, preliminary assignments of critical intervals for other features of the syndrome have now been made.All such intervals share a 1.5 Mb overlap.N However, considerable clinical variability was appar- ent and no clear genotype-phenotype correlations could be drawn that would help predict clinical prognosis in a newly-diagnosed young proband.