色素发育异常与染色体镶嵌现象：9例报告

Pigmentary dysplasias and chromosomal mosaicism: report of 9 cases.

作者信息

Ohashi H, Tsukahara M, Murano I, Naritomi K, Nishioka K, Miyake S, Kajii T

机构信息

Department of Pediatrics, Yamaguchi University, School of Medicine, Japan.

出版信息

Am J Med Genet. 1992 Jul 1;43(4):716-21. doi: 10.1002/ajmg.1320430413.

DOI:10.1002/ajmg.1320430413

PMID:1621763

Abstract

Chromosomes were studied in 9 individuals with pigmentary dysplasias of the skin and other abnormalities. Of the 9 individuals, 5 were chromosomal mosaics in both blood lymphocytes and skin fibroblasts (46,XY/47,XY, + 13;46,XX/47,XX, + 14;46,XY/47,XY, + 18;46,XX/47,XX, + 18;46, XX/47,XX, + mar), while the other 4 individuals were chromosomally normal in both tissues studied. The pigmentary dysplasias involved hypo- or hyperpigmented patches/flecks or lines/whorls. The latter ran along Blachko lines on the back, abdomen and the limbs. These patterns varied not only between individuals but also between different regions of an individual. The possibility of chimerism was studied but ruled out (1/32 to 1/256) in 7 individuals, using chromosomal heteromorphisms in the patients and their parents as markers.

摘要

对9名患有皮肤色素发育异常及其他异常的个体进行了染色体研究。在这9名个体中，5名在血液淋巴细胞和皮肤成纤维细胞中均为染色体嵌合体（46,XY/47,XY, + 13；46,XX/47,XX, + 14；46,XY/47,XY, + 18；46,XX/47,XX, + 18；46, XX/47,XX, + mar），而另外4名个体在所研究的两种组织中染色体均正常。色素发育异常包括色素减退或色素沉着斑/斑点或线条/涡状纹。后者沿着背部、腹部和四肢的布拉克科线分布。这些模式不仅在个体之间不同，而且在同一个体的不同区域也不同。利用患者及其父母的染色体异态性作为标记，对7名个体进行了嵌合体可能性的研究，但排除了这种可能性（概率为1/32至1/256）。