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Deletion of 9q22: a new observation suggesting a specific phenotype
R A Pfeiffer1, E Lachmann, W Schreyer
1Institut für Humangenetik, Friedrich-Alexander Universität Erlangen-Nürnberg, Germany.
Annales De Genetique
|January 1, 1993
Abstract:
The observation of a mentally retarded 15 months old male infant with a deletion of 9q22q2207 is compared with similar cases published between 1973 and 1991. Facial dysmorphism and abnormalities of the larynx, brain and heart suggest a particular phenotype. The critical region may be at 9q22.