Clinical and molecular studies in a large Dutch family with Noonan syndrome.
We describe the largest Noonan syndrome (NS) family reported to date. The manifestations of the affected relatives are discussed. In the absence of a biochemical marker NS is still a clinical diagnosis. The diagnostic criteria that were used are presented compared with other published criteria for diagnosing NS. The large size of this family enabled us to test the possible involvement of candidate regions by multipoint linkage analysis. Both the region surrounding the NF1 locus on chromosome 17 and the proximal part of chromosome 22 could be excluded. Since NS may well be heterogeneous, the use of such a large family in linkage studies of NS should prove indispensable.
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
I
I
van der Burgt
E
E
Berends
E
E
Lommen
S
S
van Beersum
B
B
Hamel
E
E
Mariman
D000328:Adult; D000368:Aged; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17; D002892:Chromosomes, Human, Pair 22; D004247:DNA / Q000235:genetics; D005260:Female; D016514:Genes, Neurofibromatosis 1; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D009426:Netherlands; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree
D004247:DNA