Abstract
A 2 1/2-year-old girl had anal atresia, bilateral microphthalmia, and preauricular skin tags. Her clinical pattern resembled that of 6 reported cases, all of which had an extra small acrocentric chromosome. Chromosome analysis revealed a similar extra acrocentric chromosome, which is smaller than a G group chromosome. These clinical and cytogenetic findings support the concept of a distinctive partial trisomy syndrome. The extra chromosome shows late labeling with autoradiography using tritiated thymidine. Gene marker and chromosome family studies have not revealed any unusual inheritance patterns or the origin of the marker chromosome.
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