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Title: Constitutional duplication 11q23 de novo involving the MLL gene
Author: Partida-Perez, M.
Dominguez, M.G.
Sanchez-Corona, J.
Castaneda-Cisneros, G.
Garcia-Gonzalez, C.L.
Lopez-Cardona, M.G.
Rivera, H.
Issue Date: 2006
Abstract: We report a child with mental retardation, brain anomalies and congenital heart defect. His karyotype, after G-banding and FISH with a whole chromosome probe for chromosome 11 and a locus-specific probe for the MLL gene, was 46,XY,dup(11)(q23q23) .ish dup(11)(q23q23)(wcp11+,MLL++) de novo; i.e., he had a pure partial 11q23 duplication. Clinical and cytogenetic findings of the present case were compared with the 7 previously reported cases with pure partial trisomy 11q; in 6/8 cases the region 11q23 was involved. We conclude that the scarce number of cases and their heterogeneity do not allow to establish a reliable genotype-phenotype correlation.
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