Article
Deletion of 9q22: a new observation suggesting a specific phenotype.
Annales de genetique - 1 Jan 1993
Pfeiffer R A, Lachmann E, Schreyer W, Volleth M
Abstract excerpt
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.
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