PIGMENTARY DYSPLASIAS AND CHROMOSOMAL MOSAICISM - REPORT OF 9 CASES

被引:43
作者
OHASHI, H
TSUKAHARA, M
MURANO, I
NARITOMI, K
NISHIOKA, K
MIYAKE, S
KAJII, T
机构
[1] YAMAGUCHI UNIV,SCH MED,DEPT DERMATOL,UBE,YAMAGUCHI 755,JAPAN
[2] UNIV RYUKYUS,SCH MED,DEPT PEDIAT,NAHA,OKINAWA 903,JAPAN
[3] KAGAWA PREFECTURAL CENT HOSP,DIV PEDIAT,TAKAMATSU,JAPAN
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 04期
关键词
PIGMENTARY DYSPLASIA; CHROMOSOMAL ABNORMALITY; MOSAICISM;
D O I
10.1002/ajmg.1320430413
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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 Blaschko 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.
引用
收藏
页码:716 / 721
页数:6
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