Cases of neurofibromatosis with rearrangements of chromosome 17 involving band 17q11.2

Abstract

Abstract We report on a family in which a mother and her 2 children each had von Recklinghausen neurofibromatosis and a balanced chromosome rearrangement t(1;17)(p34.3;qll.2). In addition, we describe another unrelated patient with neurofibromatosis and a presumed secondary myelodysplastic syndrome in which the bone marrow contained an abnormal clone with an unbalanced rearrangement involving a breakpoint in band 17qll.2. These findings may suggest that the neurofibromatosis gene is located in or near band 17qll.2. This information supports the studies which assign the neurofibromatosis gene to a region of chromosome 17 between the proximal p arm and band q22 on the long arm.