Yelavarthi Krishna K, Zunich Janice
Indiana University School of Medicine, Northwest Center for Medical Education, Gary, Indiana 46408, USA.
Am J Med Genet A. 2004 May 1;126A(4):423-6. doi: 10.1002/ajmg.a.20610.
We report on a case of an interstitial duplication of 11q in a patient with developmental delay and in his moderately delayed mother. Partial trisomy 11q is well documented in the literature with most cases involving the distal region of the long arm of chromosome 11. In almost all cases, this trisomy is associated with monosomy of the second chromosome involved in the parental translocation. The most common, partial 11q and 22q trisomy syndrome, is observed in offspring of t(11;22)(q23;q11.2) carriers from a 3:1 tertiary trisomic malsegregation. We found only two previous reports of pure partial trisomy 11q in the literature. Comparison of the clinical findings of our patient and another single published report of duplication in the same segment of chromosome 11 suggests that the duplication of this region manifests mild phenotypic abnormalities.
我们报告了一例患有发育迟缓的患者及其中度发育迟缓的母亲存在11q间质重复的病例。文献中对部分11q三体有充分记载，大多数病例涉及11号染色体长臂的远端区域。几乎在所有病例中，这种三体都与亲本易位中涉及的第二条染色体单体相关。最常见的部分11q和22q三体综合征，是在t(11;22)(q23;q11.2)携带者的后代中通过3:1的三级三体性错误分离观察到的。我们在文献中仅发现两篇关于纯部分11q三体的先前报道。对我们患者的临床发现与另一篇关于11号染色体同一区段重复的单一已发表报告进行比较，表明该区域的重复表现出轻度的表型异常。
