Dowman C, Lockwood D, Allanson J
Southwest Biomedical Research Institute, Scottsdale, Arizona 85251.
J Med Genet. 1989 Aug;26(8):525-8. doi: 10.1136/jmg.26.8.525.
We report a female with a deletion of 9p and concomitant duplication of 16q [46,XX,-9,+der(9),t(9;16)(p24;q13)]. Parental chromosome analysis showed a balanced maternal translocation [46,XX,t(9;16)(p24;q13)]. Three other cases of translocations involving chromosomes 9 and 16 have been reported, one of them with identical breakpoints. A review of published reports of deletion 9p and duplication 16q is presented, and a comparison is made with previously described cases.
我们报告了一名女性，其9号染色体短臂缺失并伴有16号染色体长臂重复[46,XX,-9,+der(9),t(9;16)(p24;q13)]。父母染色体分析显示母亲为平衡易位[46,XX,t(9;16)(p24;q13)]。另外已有3例涉及9号和16号染色体易位的病例报告，其中1例具有相同的断点。本文对已发表的9号染色体短臂缺失和16号染色体长臂重复的报告进行了综述，并与先前描述的病例进行了比较。
