Greig F, Rosenfeld W, Verma R S, Babu K A, David K
Ann Genet. 1985;28(3):185-8.
A male infant with partial duplication of the long arm of chromosome 11 (11q22----qter) is described with a hitherto unreported translocation. In most cases 11q trisomy is associated with 11q/22q translocation and a 3:1 meiotic disjunction with 47 chromosomes. In a few cases the 11q translocation is associated with a partial deletion of other autosomes and a total of 46 chromosomes. In the present case, translocation to 9p is involved and no apparent deletion of 9p was noted, providing an opportunity to delineate the phenotypic features due to duplication of 11q. A comparison is made between the findings of partial 11q trisomy and 11q/22q translocation.
本文描述了一名患有11号染色体长臂部分重复（11q22----qter）的男婴，其存在一种迄今未报道的易位情况。在大多数情况下，11q三体与11q/22q易位以及47条染色体的3:1减数分裂分离相关。在少数情况下，11q易位与其他常染色体的部分缺失以及总共46条染色体相关。在本病例中，涉及到与9号染色体短臂的易位，且未发现9号染色体短臂有明显缺失，这为描绘因11q重复所致的表型特征提供了机会。文中对部分11q三体和11q/22q易位的研究结果进行了比较。
