TANDEM DUPLICATION OF 11P12-P13 IN A CHILD WITH BORDERLINE DEVELOPMENT DELAY AND EYE ABNORMALITIES - DOSE-EFFECT OF THE PAX6 GENE-PRODUCT

We report on a girl with a duplication of chromosome band 11p12-->13, which includes the Wilms tumor gene (WT1) and the aniridia gene (PAX6) . The girl had borderline developmental delay, mild facial anomalies, and eye abnormalities, Eye findings were also present in most of the 1 1 other published cases with partial trisomy 11p, including 11p12-->13 . Recently, it was shown that introduction of additional copies of the PAX6 gene into mice caused very variable eye abnormalities, Therefore , a PAX6 gene dosage effect is likely to be present in mice and humans , The central nervous system may be less sensitive to an altered PAX6 gene dosage, which is consistent with the borderline developmental del ay in the present patient, Urogenital abnormalities were absent in thi s patient and in most of the other patients with partial trisomy of 11 p, Therefore, the effect of a WT1 gene duplication on the embryologica l development of the urogenital tract remains uncertain. (C) 1997 Wile y-Liss, Inc.