Partida-Pérez M, Domínguez M G, Sánchez-Corona J, Castañeda-Cisneros G, García-González C L, López-Cardona M G, Rivera H
Universidad de Guadalajara, México.
Genet Couns. 2006;17(2):155-9.
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.
我们报告了一名患有智力发育迟缓、脑异常和先天性心脏缺陷的儿童。对其进行G显带以及使用11号染色体全染色体探针和MLL基因位点特异性探针进行荧光原位杂交（FISH）后，其核型为46,XY,dup(11)(q23q23)。ish dup(11)(q23q23)(wcp11 +, MLL ++) 新发；即，他患有单纯的11q23部分重复。将本病例的临床和细胞遗传学结果与之前报道的7例单纯11q部分三体病例进行了比较；在8例中的6例中，11q23区域受累。我们得出结论，病例数量稀少及其异质性使得无法建立可靠的基因型-表型相关性。
