1.
Genet Couns
; 17(2): 155-9, 2006.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16970032
RESUMO
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.
Assuntos
Cromossomos Humanos Par 11/genética , Duplicação Gênica , Proteína de Leucina Linfoide-Mieloide/genética , Encéfalo/anormalidades , Citogenética/métodos , Genótipo , Histona-Lisina N-Metiltransferase , Humanos , Hibridização in Situ Fluorescente , Lactente , Deficiência Intelectual/genética , Cariotipagem , Masculino , Fenótipo , Trissomia/genética
2.
Am J Med Genet A
; 140(11): 1245-9, 2006 Jun 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16688750