MALFORMATIONS AND MINOR ANOMALIES IN NON-TRISOMIC, AUTOSOMAL ANEUPLOIDY

We examined the medical records of 43 individuals with non-trisomic, a utosomal aneuploidy evaluated by the Arkansas Genetics Program. Birthw eight and the presence of malformations and minor anomalies by organ s ystem were analyzed on each patient. Low birthweight was present in 28 % (N = 12) of the patients, 72% (N = 31) of the subjects had a malform ation, 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 (2 1%), or heart (26%). If a malformation was present, the head was signi ficantly more likely (P < .04) than another body system to be the site of an additional malformation or minor anomaly. A malformation or min or anomaly of the ears was significantly more likely (P < .03) to be p resent when there was an associated eye anomaly than when no anomaly o f 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. (C) 1993 Wiley-Liss, Inc.