Rosenfeld W, Verma R S, Jhaveri R C, Estrada R, Evans H, Dosik H
Am J Med Genet. 1981;10(2):187-92. doi: 10.1002/ajmg.1320100212.
A patient with duplication of a short segment of 3q (3q21 leads to 26) without apparent deletion of 3 or of other chromosomes provided a further opportunity to study manifestations of this abnormality. The proposita had a broad nasal bridge, anteverted nostrils, webbed neck, and clinodactyly V in addition to congenital heart disease, limb abnormalities, cleft palate, and severe developmental delay. The infant did not have the hirsutism and synophrys present in other cases.
一名3q短片段重复（3q21至26）且3号染色体或其他染色体无明显缺失的患者，为研究这种异常的表现提供了进一步的机会。先证者除患有先天性心脏病、肢体异常、腭裂和严重发育迟缓外，还具有宽鼻梁、鼻孔前倾、蹼颈和第五指弯曲。该婴儿没有其他病例中出现的多毛症和连眉。
