title: Neurogenic arthrogryposis multiplex congenita and velopharyngeal incompetence associated with chromosome 22q11.2 deletion.
abstract: We report a case of neurogenic arthrogryposis multiplex congenita and velopharyngeal incompetence in association with a chromosome 22q11.2 deletion in a 5-month-old boy, the only child of a non-consanguineous couple without relevant antecedents. Specifically, polymerase chain reaction amplification of microsatellite markers revealed a noninherited microdeletion in position D22S306. This phenotype has not been reported previously in association with chromosome 22q11.2 deletions, and these findings raise the possibility that at least some cases of neurogenic arthrogryposis multiplex congenita might be due to genetic defects of this type.
authors.affiliation: Departamento de Pediatría, Servicio de Neuropediatría, Hospital Clínico Universitario, Universidad de Santiago de Compostela, Spain. pdcastro@usc.es
authors.forename: Manuel
authors.initials: M
authors.lastname: Castro-Gago
authors.forename: José Mariá
authors.initials: JM
authors.lastname: Iglesias-Meleiro
authors.forename: Manuel Oscar
authors.initials: MO
authors.lastname: Blanco-Barca
authors.forename: Mónica
authors.initials: M
authors.lastname: Grande-Seijo
authors.forename: Francisco
authors.initials: F
authors.lastname: Barros-Angueira
authors.forename: Jesús
authors.initials: J
authors.lastname: Eirís-Puñal
mesh_terms: D001176:Arthrogryposis / Q000235:genetics*; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D016133:Polymerase Chain Reaction