Wf. Flintoff et al., NO EVIDENCE FOR LINKAGE TO THE TYPE-1 OR TYPE-2 NEUROFIBROMATOSIS LOCI IN NOONAN SYNDROME FAMILIES, American journal of medical genetics, 46(6), 1993, pp. 700-705
A linkage analysis has been performed on 6 two-generation families wit
h classical Noonan syndrome to determine whether the syndrome is linke
d to neurofibromatosis type 1 on chromosome 17q or to neurofibromatosi
s type 2 on chromosome 22q. A significantly negative location score wa
s obtained between 10 cM centromeric to and 15 cM telomeric from the n
eurofibromatosis type 1 locus. A significantly negative lod score was
obtained with a marker mapping within the region where neurofibromatos
is type 2 is thought to be located. These data indicate that Noonan sy
ndrome is not tightly linked to either neurofibromatosis type 1 or typ
e 2. (C) 1993 Wiley-Liss, Inc.