Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/40325
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.
URI: http://www.scopus.com/inward/record.url?eid=2-s2.0-33748252453&partnerID=40&md5=f44cf38bb3ef6c2b0d9556ae4f8ce771
http://ovidsp.ovid.com/ovidweb.cgi?T=JS&CSC=Y&NEWS=N&PAGE=fulltext&D=med5&AN=16970032
http://hdl.handle.net/20.500.12104/40325
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