Figure 1.

Pedigree and chromosome 12q haplotypes of the affected family: The NF1 clinical features segregate with the 3-base pair deletion of the NF1 gene (2971delAAT). Haplotype analysis does not show segregation of the PTPN11 locus with the Noonan clinical features using polymorphic short tandem repeat microsatellite markers specific for chromosome 12q. D12S829 and D12S800 are located approximately 18 Mb and 8 Mb proximal to the PTPN11 locus respectively. D12S811 is located approximately 1 Mb distal to the PTPN11 locus. A cross-over event likely occurred between markers D12S829 and D12S800 in II-3. CH 12q = chromosome 12q; c = centromere; t = telomere; NF1 = neurofibromatosis type 1.