Two NF1 translocations map within a 600-kilobase segment of 17q11.2

Peter O'Connell, Robin Leach, Richard M. Cawthon, Melanie Culver, Jeffrey Stevens, David Viskochil, R. E.Keith Fournier, Donna C. Rich, David H. Ledbetter, Ray White

Research output: Contribution to journalArticlepeer-review

70 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1087-1088
Number of pages2
Issue number4908
StatePublished - 1989
Externally publishedYes

ASJC Scopus subject areas

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