人类11号染色体的两个臂间倒位

Simola K, Karli P, De La Chapelle A

J Med Genet. 1977 Oct;14(5):371-4. doi: 10.1136/jmg.14.5.371.

A pericentric inv(11) (pl5q23) detectable by G-, Q-, and R-banding and occuring in 1 member of each of 3 generations of a family is described. In another family studied by several banding methods in search of chromosomal markers, a pericentric inv(11) (p11q11) was found. It was detectable only by C-banding, the darkly staining band being located on the short-arm side of the centromere. The reasons for defining this aberration as an inversion rather than a location variant are outlined. This inversion occurred in 9 members of 3 generations of a large family. There was no clear-cut evidence of any clinical consequences of these inversions either in heterozygotes or their offspring.

本文描述了一个通过G显带、Q显带和R显带可检测到的11号染色体臂间倒位（pl5q23），该倒位出现在一个家族三代人中的每一代的一名成员身上。在另一个通过多种显带方法研究以寻找染色体标记的家族中，发现了一个11号染色体臂间倒位（p11q11）。它仅通过C显带可检测到，深色染色带位于着丝粒的短臂侧。文中概述了将这种畸变定义为倒位而非位置变异的原因。这种倒位发生在一个大家庭三代中的9名成员身上。无论是杂合子还是其后代，都没有明确证据表明这些倒位有任何临床后果。