Malformations and minor anomalies in non-trisomic, autosomal aneuploidy.

Overview

We examined the medical records of 43 individuals with non-trisomic, autosomal aneuploidy evaluated by the Arkansas Genetics Program. Birthweight and the presence of malformations and minor anomalies by organ system were analyzed on each patient. Low birthweight was present in 28% (N = 12) of the patients, 72% (N = 31) of the subjects had a malformation, and 93% (N = 40) had a minor anomaly. Of the entire sample, the most common site of a malformation or minor anomaly was the limbs (79%). The most common site of a malformation was the head (21%), eyes (21%), or heart (26%). If a malformation was present, the head was significantly more likely (P < .04) than another body system to be the site of an additional malformation or minor anomaly. A malformation or minor anomaly of the ears was significantly more likely (P < .03) to be present when there was an associated eye anomaly than when no anomaly of the eye was identified. These data have implications for chromosome screening of individuals with malformations or minor anomalies and for the clinical evaluation of those found to have non-trisomic autosomal aneuploidy.