Neurogenic arthrogryposis multiplex congenita and velopharyngeal incompetence associated with chromosome 22q11.2 deletion.
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.
Castro-Gago
Manuel
M
Departamento de Pediatría, Servicio de Neuropediatría, Hospital Clínico Universitario, Universidad de Santiago de Compostela, Spain. pdcastro@usc.es
Iglesias-Meleiro
José Mariá
JM
Blanco-Barca
Manuel Oscar
MO
Grande-Seijo
Mónica
M
Barros-Angueira
Francisco
F
Eirís-Puñal
Jesús
J
D001176:Arthrogryposis / Q000235:genetics*; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D016133:Polymerase Chain Reaction