A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings
| Autor: | Andressa Schneiders Santos, Andressa Barreto Glaeser, Victória Feitosa Muniz, Eduardo Morais Everling, Juliana Miola, Patrícia Yuri Noguchi, Bruna Lixinski Diniz, Bruna Baierle Guaraná, Bianca Soares Carlotto, Aline Ramos Garcia, Mariluce Riegel, Paulo Ricardo Gazzola Zen, Rafaella Mergener, Rafael Fabiano Machado Rosa |
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| Rok vydání: | 2020 |
| Předmět: |
Chromosomes
Human Pair 22 Gene Dosage Chromosome Disorders Biology Goldenhar Syndrome Centromere Chromosome Duplication Genetics medicine Humans Supernumerary Eye Abnormalities Child Gene Genetics (clinical) Comparative Genomic Hybridization Chromosome General Medicine medicine.disease Aneuploidy Phenotype Cat eye syndrome dup Female Chromosome 22 |
| Zdroj: | European journal of medical genetics. 64(11) |
| ISSN: | 1878-0849 |
| Popis: | Cat eye syndrome (CES) is a rare chromosomal disorder that may be evident at birth. A small supernumerary chromosome is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11) in those affected. It's known that the 22q11 region is associated with disorders involving higher and lower gene dosages. Conditions such as CES, 22q11 microduplication syndrome (Dup22q11) and oculoauriculovertebral spectrum phenotype (OAVS) may share genes belonging to this same region, which is known to have a predisposition to chromosomal rearrangements. The conditions, besides being related to chromosome 22, also share similar phenotypes. Here we have added a molecular evaluation update and results found of the first patient described with CES and OAVS phenotype, trying to explain the potential mechanism involved in the occurrence of this association. |
| Databáze: | OpenAIRE |
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