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The Ocular Pathology of Trisomy 22: Report of Two Cases and Review

1990; Slack Incorporated (United States); Volume: 27; Issue: 6 Linguagem: Inglês

10.3928/0191-3913-19901101-09

1938-2405

Catherine Antle, J. Tapio Pantzar, Valerie A. White,

Prenatal Screening and Diagnostics

ABSTRACT Two cases of full trisomy 22 with the associated gross and microscopic pathology are reported. These cases demonstrate the typical craniofacial and organ system anomalies previously reported in trisomy 22 but also exhibit uveal colobomas that, within the spectrum of chromosome 22 anomalies, are usually restricted to the so-called "cat eye" syndrome. The attendant microscopic ocular findings represent, to the best of our knowledge, the first such report in the literature.