title: Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion.
abstract: We describe a girl with a phenotype characterized by frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies who presents a 46,XX,r(21) karyotype. Array-comparative genomic hybridization using the Afflymetrix 100K DNA oligoarray set showed an interstitial deletion 21q22.3 of approximately 219 kb. Conventional karyotype of both parents was normal, and it was not possible to perform the molecular studies. In this report we raise the hypothesis that the deleted genes located at 21q22.3 could account to the phenotype.
authors.affiliation: Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP, Brazil. mlguion@usp.br
authors.forename: Maria Leine
authors.initials: ML
authors.lastname: Guion-Almeida
authors.forename: Antonio
authors.initials: A
authors.lastname: Richieri-Costa
authors.forename: Fernanda Sarquis
authors.initials: FS
authors.lastname: Jehee
authors.forename: Maria Rita Santos
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: Roseli Maria
authors.initials: RM
authors.lastname: Zechi-Ceide
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D061085:Agenesis of Corpus Callosum / Q000175:diagnosis / Q000235:genetics; D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21; D055028:Comparative Genomic Hybridization; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000235:genetics; D019465:Craniofacial Abnormalities; D004677:Encephalocele / Q000175:diagnosis / Q000235:genetics; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics; D005145:Face / Q000002:abnormalities; D019066:Facies; D005260:Female; D006801:Humans; D007223:Infant; D059785:Karyotype; D008279:Magnetic Resonance Imaging; D059906:Neuroimaging; D020641:Polymorphism, Single Nucleotide; D013577:Syndrome