Donnenfeld A E, Coyne M D, Beauregard L J
Southern Maine Genetic Service, Foundation for Blood Research, Scarborough.
Am J Med Genet. 1990 Apr;35(4):529-31. doi: 10.1002/ajmg.1320350418.
We report on a newborn boy with a de novo inverted interstitial duplication of chromosome 8(q13----q24.1). This form of cytogenetic abnormality, in which a mirror image interstitial duplication has occurred, is exceedingly rare. Review of the literature and mechanisms to explain the origin of this type of chromosome aberration are presented. A review of the findings from individuals with partial dup(8q) demonstrate remarkable similarity to the infant we describe.
我们报告了一名患有8号染色体新发倒位间质性重复（q13----q24.1）的男婴。这种细胞遗传学异常形式，即出现镜像间质性重复，极为罕见。本文回顾了相关文献并阐述了解释这类染色体畸变起源的机制。对部分8号染色体长臂重复（dup(8q)）个体的研究结果回顾显示，与我们所描述的婴儿有显著相似性。
