title: Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype.
abstract: The oculo-auriculo-vertebral spectrum (OAVS) is defined as a group of malformations involving the ears, mouth, mandible, eyes, and cervical spine. Establishing an accurate clinical diagnosis of OAVS is a challenge for clinical geneticists, not only because these patients display heterogeneous phenotypes, but also because its etiology encompasses environmental factors, unknown genetic factors and different chromosome aberrations. To date, several chromosomal abnormalities have been associated with the syndrome, most frequently involving chromosome 22. In the literature, six 22q11.2 microdeletions have been described within the same region, suggesting possible OAVS candidate genes in this segment. Here, we report on a patient with an ∼581-kb 22q11.21 deletion, detected by genomic array and MLPA. This is the 7th case described with OAVS and 22q deletion, suggesting that the 22q11.2 region may be related to the regulation of body symmetry and facial development.
authors.affiliation: Genetics Division, Department of Morphology and Genetics, Universidade Federal de Sx00E3;o Paulo, Sx00E3;o Paulo, Brazil.
authors.forename: Mileny E S
authors.initials: ME
authors.lastname: Colovati
authors.forename: Silvia
authors.initials: S
authors.lastname: Bragagnolo
authors.forename: Roberta S
authors.initials: RS
authors.lastname: Guilherme
authors.forename: Anelisa G
authors.initials: AG
authors.lastname: Dantas
authors.forename: Maria F
authors.initials: MF
authors.lastname: Soares
authors.forename: Chong A
authors.initials: CA
authors.lastname: Kim
authors.forename: Ana B A
authors.initials: AB
authors.lastname: Perez
authors.forename: Maria I
authors.initials: MI
authors.lastname: Melaragno
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D006053:Goldenhar Syndrome / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D059785:Karyotype; D008297:Male; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide