Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype

Author(s)

Colovati, Mileny E. S. ^[1] ; Bragagnolo, Silvia ^[1] ; Guilherme, Roberta S. ^[1] ; Dantas, Anelisa G. ^[1] ; Soares, Maria F. ^[2] ; Kim, Chong A. ^[3] ; Perez, Ana B. A. ^[1] ; Melaragno, Maria I. ^[1]

Affiliation

^[1] Univ Fed Sao Paulo, Dept Morphol & Genet, Div Genet, BR-04023900 Sao Paulo, SP - Brazil

^[2] Univ Fed Sao Paulo, Dept Imaging Diag, BR-04023900 Sao Paulo, SP - Brazil

^[3] Univ Sao Paulo, Inst Crianca, Genet Unit, Sao Paulo - Brazil

• Document type: Journal article
• Source: Cytogenetic and Genome Research; v. 147, n. 2-3, p. 130-134, 2015.
• Web of Science Citations: 4

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 similar to 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. (C) 2016 S. Karger AG, Basel (AU)

• FAPESP's process: 13/04623-2 - Goldenhar syndrome and oculo-auriculo-vertebral spectrum (GS/OAVS): clinical, citogenomic and molecular study
• Grantee: Ana Beatriz Alvarez Perez
• Support Opportunities: Regular Research Grants