由于倒位重复和直接重复导致的18号染色体短臂部分三体性

Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication.

作者信息

Moog U, Engelen J J, de Die-Smulders C E, Albrechts J C, Loneus W H, Haagen A A, Raven E J, Hamers A J

机构信息

Department of Molecular Cell Biology and Genetics, University of Limburg, Maastricht, The Netherlands.

出版信息

Clin Genet. 1994 Dec;46(6):423-9. doi: 10.1111/j.1399-0004.1994.tb04410.x.

DOI:10.1111/j.1399-0004.1994.tb04410.x

PMID:7889659

Abstract

We report one patient with a de novo inversion duplication 18 (pter-->cen) and two cases of direct tandem duplication 18 (pter-->cen), one due to maternal inheritance and the other arising as mosaicism of unknown origin. The duplications are demonstrated by high resolution banding. They were verified by in situ hybridization with a paint specific for chromosome 18 and with DNA probe LI.84 specific for the centromere region of chromosome 18. FISH with the genomic DNA probe pHRR68 specific for 18p11.32 revealed a subtle deletion concomitantly involved in the case of inversion duplication 18p. The patients exhibit slight developmental delay/moderate mental retardation and only a few dysmorphic features. The literature on trisomy 18p is reviewed and the present cases are compared to it.

摘要

我们报告了1例新发18号染色体臂间倒位重复（pter→cen）患者和2例18号染色体正向串联重复（pter→cen）患者，其中1例为母系遗传，另1例为来源不明的嵌合体。通过高分辨率显带证实了重复。用针对18号染色体的特异性涂染探针和针对18号染色体着丝粒区域的DNA探针LI.84进行原位杂交验证。用针对18p11.32的基因组DNA探针pHRR68进行荧光原位杂交（FISH）显示，在18号染色体短臂倒位重复的病例中同时存在一个微小缺失。这些患者表现出轻度发育迟缓/中度智力障碍，仅有少数畸形特征。本文对18号染色体短臂三体的文献进行了综述，并将当前病例与之进行了比较。