Disorders


 

Cat Eye Syndrome


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

 

OMIM


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• Deletion/duplication analysis
 

* 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.

Loading...