Cat Eye Syndrome

Reference work entry

Cat eye syndrome is a clinically recognizable congenital malformation syndrome consisting primarily of colobomas, anal anomalies, preauricular anomalies, cardiac and renal defects, and mild to moderate mental retardation. The name “cat eye” was introduced because of iris colobomas resembling the pupils of the cat.

Synonyms and Related Disorders

Schmid-Fraccaro syndrome; Chromosome 22 partial tetrasomy inv dup(22)(q11)

Genetics/Basic Defects

  1. 1.
    Historic background
    1. a.

      In 1965, an extra bisatellited marker chromosome was described in patients with cat eye syndrome phenotype (Schachenmann et al. 1965).

       
    2. b.

      Later in 1981, the marker was determined to be an inverted dicentric duplication of a part of chromosome 22 [inv dup(22)(pter → q11::q11 → pter)].

       
     
  2. 2.
    Molecular and cytogenetic bases
    1. a.

      Associated with the presence of three copies (trisomy) or four copies (tetrasomy) of a segment of chromosome 22q11.2, usually in the form of a bisatellited, isodicentric supernumerary chromosome...

Keywords

Recombination Microcephaly Megacolon Colobomas Microphthalmia 

References

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