NO EVIDENCE FOR LINKAGE TO THE TYPE-1 OR TYPE-2 NEUROFIBROMATOSIS LOCI IN NOONAN SYNDROME FAMILIES

Citation
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
Citations number
30
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
46
Issue
6
Year of publication
1993
Pages
700 - 705
Database
ISI
SICI code
0148-7299(1993)46:6<700:NEFLTT>2.0.ZU;2-9
Abstract
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.