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cat-eye syndrome
Genetics:
- associated with duplication of a 2 Mb region of 22q11.2
- duplication usually takes form of a surpernumerary bisatellited isodicentric chromosome, resulting in 4 copies of the region (represents an inv dup(22)(q11))
- candidate genes CECR1, CECR2,CECR9
Clinical manifestations:
- coloboma of the iris
- anal atresia with fistula
- downslanting palpebral fissures
- preauricular tags &/or pits
- frequent occurrence of heart & renal malformations
- normal or near-normal mental development
General
genetic syndrome (multisystem disorder)
developmental disorder
References
UniProt :accession Q9BXF3