Bianchi D W, Nicholls R D, Russell K A, Miller W A, Ellin M, Lage J M
Division of Genetics, Children's Hospital, Boston, MA 02115.
Am J Med Genet. 1992 Jul 15;43(5):791-5. doi: 10.1002/ajmg.1320430507.
Constitutional pericentric inversions of chromosome 16 are rare in the general population. We report here a large kindred who carry an inv(16)(p13q22) rearrangement. In general, individuals with the inv(16) are in good health but prone to reproductive loss. Two different types of recombinant offspring were identified in this family and analyzed at the molecular level using probes from the alpha-globin and polycystic kidney disease loci. Both were associated with serious major malformations.
16号染色体的体质性臂间倒位在普通人群中较为罕见。我们在此报告一个携带inv(16)(p13q22)重排的大家族。一般来说，携带inv(16)的个体健康状况良好，但容易出现生殖损失。在这个家族中鉴定出两种不同类型的重组后代，并使用来自α-珠蛋白和多囊肾病位点的探针进行分子水平分析。两者均与严重的主要畸形相关。
