title: Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product?
abstract: 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 11 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 delay in the present patient. Urogenital abnormalities were absent in this patient and in most of the other patients with partial trisomy of 11p. Therefore, the effect of a WT1 gene duplication on the embryological development of the urogenital tract remains uncertain.
authors.affiliation: Institute of Human Genetics, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: C M
authors.initials: CM
authors.lastname: Aalfs
authors.forename: J A
authors.initials: JA
authors.lastname: Fantes
authors.forename: L J
authors.initials: LJ
authors.lastname: Wenniger-Prick
authors.forename: S
authors.initials: S
authors.lastname: Sluijter
authors.forename: R C
authors.initials: RC
authors.lastname: Hennekam
authors.forename: V
authors.initials: V
authors.lastname: van Heyningen
authors.forename: J M
authors.initials: JM
authors.lastname: Hoovers
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics*; D005136:Eye Proteins; D005145:Face / Q000002:abnormalities; D005260:Female; D018628:Gene Dosage; D018398:Homeodomain Proteins; D006801:Humans; D007223:Infant; D007621:Karyotyping; D005810:Multigene Family; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins
chemical_list: D004268:DNA-Binding Proteins; D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; C000605732:Pax6 protein, mouse; D012097:Repressor Proteins