The fragile-X phenotype. Computer assisted analysis of the dysmorphological features and discrimination from the Sotos phenotype.

Article

The fragile-X phenotype. Computer assisted analysis of the dysmorphological features and discrimination from the Sotos phenotype.

Genetic counseling (Geneva, Switzerland) - 1 Jan 1993

Stengel-Rutkowski S, Apacik C, Kreyenberg K, Jakobeit M, Schmalenberger B, Fahsold R

Abstract excerpt

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...

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