Disorders

Cat Eye Syndrome

Synonym(s): CES, Chromosome 22 Partial Tetrasomy, Schmid-Fraccaro Syndrome

Laboratory	Test Method	Prenatal	Carrier *
Cincinnati Children's Hospital Medical Center, Cytogenetics Laboratory - Cincinnati, OH, USA	• FISH-metaphase
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase • FISH-interphase
University of Alberta, Molecular Diagnostic Laboratory - Edmonton, Canada

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.