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The fragile-X phenotype. Computer assisted analysis of the dysmorphological features and discrimination from the
S Stengel-Rutkowski1, C Apacik, K Kreyenberg
1Institute für Soziale Pädiatrie und Jugendmedizin der Universität Abteilung Genetik, München.
Genetic Counseling (Geneva, Switzerland)
|January 1, 1993
Abstract:
Fragile-X and Sotos phenotypes may be difficult to distinguish. This is illustrated with a case report. Computer assisted phenotype analyses (MDDB), using the complete trait list of this patient, suggested the fragile-X diagnosis, which later was confirmed by molecular techniques. The results of corresponding phenotype analyses are summarized for 17 children with proven fragile-X, and 10 children with suggested Sotos syndrome.