Salazar D, Rosenfeld W, Verma R S, Jhaveri R C, Dosik H
Am J Dis Child. 1979 Oct;133(10):1006-8. doi: 10.1001/archpedi.1979.02130100030005.
In four previously reported patients with partial 3q trisomy, only a small portion of 3q was trisomic (3q21 leads to qter or 3q25 leads to qter). Clinical features in these cases have included the following: low-set ears, mongoloid slant of eyes, hypertelorism, cleft palate, webbed neck, simian creases, short finger, clinodactyly, hypotonia, and low-set hairline. Cytogenetic studies of a premature, 1,680-g female infant with with these clinical features showed this extra material to be part of the long arm of chromosome 3 (3q12 leads qter), which resulted in partial trisomy for this segment, ie, 46,XX,-18, +t (3;18) (q12;p11). Although a larger portion of 3q was involved in this case, the clinical picture was similar to other cases of 3q duplication with or without 3p deletion.
在之前报道的4例部分3号染色体长臂三体患者中，只有一小部分3号染色体长臂呈三体状态（3q21至qter或3q25至qter）。这些病例的临床特征包括：低位耳、眼距增宽、腭裂、蹼颈、猿线、短指、小指内弯、肌张力减退和低发际线。对一名体重1680克的早产女婴进行细胞遗传学研究，该女婴具有这些临床特征，结果显示这条额外的物质是3号染色体长臂（3q12至qter）的一部分，这导致该片段部分三体，即46,XX,-18,+t(3;18)(q12;p11)。尽管在该病例中涉及的3号染色体长臂部分更大，但临床表现与其他有或无3号染色体短臂缺失的3号染色体长臂重复病例相似。
