PT - JOURNAL ARTICLE AU - O'Connell, P AU - Leach, R AU - Cawthon, RM AU - Culver, M AU - Stevens, J AU - Viskochil, D AU - Fournier, RE AU - Rich, DC AU - Ledbetter, DH AU - White, R TI - Two NF1 translocations map within a 600-kilobase segment of 17q11.2 AID - 10.1126/science.2543077 DP - 1989 Jun 02 TA - Science PG - 1087--1088 VI - 244 IP - 4908 4099 - http://science.sciencemag.org/content/244/4908/1087.short 4100 - http://science.sciencemag.org/content/244/4908/1087.full SO - Science1989 Jun 02; 244 AB - Balanced translocations, each involving chromosome 17q11.2, have been described in two patients with von Recklinghausen neurofibromatosis (NF1). To better localize the end points of these translocation events, and the NF1 gene (NF1) itself, human cosmids were isolated and mapped in the immediate vicinity of NF1. One cosmid probe, c11-1F10, demonstrated that both translocation breakpoints, and presumably NF1, are contained within a 600-kilobase Nru I fragment.