Clinical and molecular studies in a large dutch family with Noonan syndrome

Journal Article · Tue Nov 01 04:00:00 EST 1994 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320530213· OSTI ID:61988

Burgt, I van der; Berends, E; Lommen, E; Beersum, S van; Hamel, B; Mariman, E ^[1]

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1. University Hospital Nijmegen, Veldhoven (Netherlands)

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. 16 refs., 6 figs., 1 tab.

• Sponsoring Organization: USDOE
• OSTI ID: 61988
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 2 Vol. 53; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
DIAGNOSTIC USES
DNA HYBRIDIZATION
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 17
HUMAN CHROMOSOME 22
HUMAN POPULATIONS
POLYMERASE CHAIN REACTION
STATISTICAL MODELS