Constitutional duplication 11q23 de novo involving the MLL gene.
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.
Partida-Pérez
M
M
Universidad de Guadalajara, México.
Domínguez
M G
MG
Sánchez-Corona
J
J
Castañeda-Cisneros
G
G
García-González
C L
CL
López-Cardona
M G
MG
Rivera
H
H
D001921:Brain / Q000002:abnormalities; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D003582:Cytogenetics / Q000379:methods; D020440:Gene Duplication; D005838:Genotype; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics*; D010641:Phenotype; D014314:Trisomy / Q000235:genetics
C497422:KMT2A protein, human; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase