一条额外标记染色体15的结构、起源及效应

Structure, origin and effects of a supernumerary marker chromosome 15.

作者信息

Schmid M, Schindler D, Haaf T

出版信息

Clin Genet. 1986 Jul;30(1):63-71. doi: 10.1111/j.1399-0004.1986.tb00570.x.

DOI:10.1111/j.1399-0004.1986.tb00570.x

Abstract

A de novo supernumerary small marker chromosome 15 was observed in a female infant with mental and statomotoric retardation as well as minor facial dysmorphia. The marker chromosome was analyzed by ten different staining techniques and 5-azacytidine treatment of lymphocyte cultures. It is shown that the supernumerary chromosome was derived by a non-sister chromatid exchange between the two homologous maternal chromosomes 15. The cytogenetical properties of the marker chromosome, the different activity of its two nucleolus organizer regions and the somatic pairing configurations revealed by 5-azacyidine are reported.

摘要

在一名患有智力和运动发育迟缓以及轻度面部畸形的女婴中观察到一条新生的额外小标记染色体15。通过十种不同的染色技术以及对淋巴细胞培养物进行5-氮杂胞苷处理对该标记染色体进行了分析。结果表明，这条额外染色体是由两条同源母源15号染色体之间的非姐妹染色单体交换产生的。报告了该标记染色体的细胞遗传学特性、其两个核仁组织区的不同活性以及5-氮杂胞苷揭示的体细胞配对构型。