Schürmann M, Wethling H, Niemeyer M L, Schwinger E
Klin Padiatr. 1987 Jan-Feb;199(1):27-31. doi: 10.1055/s-2008-1026754.
An unbalanced structural chromosome aberration was found in a 6-year-old girl. Mother and maternal grandmother were shown to be carriers of a complex balanced translocation involving chromosomes 1, 5 and 15 and are of normal phenotype. The unbalanced status in the proband was defined as a partial trisomy 1p21-1p31. Partial trisomies of this chromosomal segment have rarely been reported. Unexpectedly, the consequences on the child's phenotype are only minor. Main features are: facial dysmorphy, small stature and syndactyly of 4th and 5th toes; mental and statomotoric development are not grossly affected.
在一名6岁女孩中发现了一种不平衡的结构性染色体畸变。母亲和外祖母被证明是涉及1号、5号和15号染色体的复杂平衡易位的携带者，且表型正常。先证者的不平衡状态被定义为1p21 - 1p31部分三体。这种染色体片段的部分三体很少有报道。出乎意料的是，对孩子表型的影响很小。主要特征为：面部畸形、身材矮小以及第4和第5趾并指；智力和运动发育未受到严重影响。
