title: 1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype.
abstract: We report two new patients with the 1.4Mb recurrent 22q11.2 distal deletion syndrome. Features common to both children, as well as to several of the previously reported cases, include normal palate, smooth philtrum, hypoplastic alae nasi and delayed development. Both children are small but not growth retarded, and are microcephalic. Their developmental delay is global and most pronounced for language acquisition. One child has unilateral sensorineural hearing loss and encopresis, and the other child has treatment-responsive nocturnal epileptogenic activity. These two new cases confirm the recurrent nature of the deletion and help to further delineate the phenotype.
authors: Department of Medical Genetics, Ullevål University Hospital, Oslo, Norway. olaug.rodningen@klinmed.uio.no
authors: Olaug K
authors: OK
authors: Rødningen
authors: Trine
authors: T
authors: Prescott
authors: Ann-Sofie
authors: AS
authors: Eriksson
authors: Oddveig
authors: O
authors: Røsby
mesh_terms: D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013577:Syndrome