Bridge J, Sanger W, Mosher G, Buehler B, Nelson R, Welsh M, Newland J, Kafka M
Am J Med Genet. 1985 Jun;21(2):225-9. doi: 10.1002/ajmg.1320210204.
A newborn female was found to have a deletion of the terminal portion of 17q. Prominent manifestations included microcephaly, apparent hypertelorism, epicanthic folds, a broad nasal bridge with anteverted nostrils, posteriorly angulated ears, micrognathia, widely spaced nipples, arachnodactyly with proximal thumbs, and a coxa vara deformity. The unbalanced translocation was inherited from the mother, who had a reciprocal translocation involving the terminal portions of 2p and 17q. To the best of our knowledge, this is the first report of a liveborn infant with deletion of the distal portion of 17q with the exception of reports of patients with ring chromosome 17.
一名新生女婴被发现17号染色体长臂末端存在缺失。主要表现包括小头畸形、明显的眼距增宽、内眦赘皮、鼻梁宽且鼻孔前倾、耳向后成角、小颌畸形、乳头间距宽、近端拇指的蜘蛛指以及髋内翻畸形。这种不平衡易位遗传自母亲，母亲有涉及2号染色体短臂和17号染色体长臂末端的相互易位。据我们所知，除了17号环状染色体患者的报告外，这是首例关于17号染色体长臂远端缺失的活产婴儿报告。
