Article
Constitutional duplication 11q23 de novo involving the MLL gene.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2006
Partida-Pérez M, Domínguez M G, Sánchez-Corona J, Castañeda-Cisneros G, García-González C L, López-Cardona M G, Rivera H
Abstract excerpt
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...
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