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

More general terms

• genetic syndrome (multisystem disorder)
• developmental disorder