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All individuals with 18p deletions that were the result of inherited unbalanced translocations or other rearrangements were excluded from the analysis.
Only nonmosaic patients with de novo deletions of 18p were included in the study.
Genomic DNA was isolated from whole blood using the PUREGENE DNA Isolation kit (Gentra Systems; Minneapolis, MN).
Molecular analysis of the deletions was completed by PCR with polymorphic microsatellite primers.
Methods: Molecular and fluorescence in situ hybridization analyses of the pericentromeric region of chromosome 18 were performed on genomic DNA and chromosomes from study participants.