title: Deletion of 9q22: a new observation suggesting a specific phenotype.
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.
authors.affiliation: Institut für Humangenetik, Friedrich-Alexander Universität Erlangen-Nürnberg, Germany.
authors.forename: R A
authors.initials: RA
authors.lastname: Pfeiffer
authors.forename: E
authors.initials: E
authors.lastname: Lachmann
authors.forename: W
authors.initials: W
authors.lastname: Schreyer
authors.forename: M
authors.initials: M
authors.lastname: Volleth
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D005146:Facial Asymmetry / Q000151:congenital / Q000235:genetics*; D005190:Family; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010641:Phenotype