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Neurogenic Arthrogryposis Multiplex Congenita and Velopharyngeal Incompetence Associated With Chromosome 22q11.2 Deletion

2005; SAGE Publishing; Volume: 20; Issue: 1 Linguagem: Inglês

10.1177/08830738050200011301

1708-8283

Manuel Castro‐Gago, José María Iglesias-Meleiro, Manuel Oscar Blanco Barca, Mónica Grande-Seijo, Francisco Barros, Jesús Manuel Eirís Puñal,

Genetics and Neurodevelopmental Disorders

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.