Atypical Peters' anomaly associated with partial trisomy 5p.

Abstract

We examined a child who had atypical Peters' anomaly and partial trisomy 5p. An 11-week-old female infant with multiple developmental malformations and a partial trisomy 5p had bilateral corneal opacities extending from the center of the cornea to the paralimbal region and bilateral iridocorneal adhesions in the areas of the corneal opacities. In addition to association with several other chromosomal disorders, Peters' anomaly may be associated with partial trisomy 5p. Since partial trisomy 5p can be diagnosed by genetic evaluation, a chromosomal analysis should be performed for children with Peters' anomaly.