Pigmentary dysplasias and chromosomal mosaicism: Report of 9 cases

✍ Scribed by Ohashi, Hirofumi ;Tsukahara, Masato ;Murano, Ichiro ;Naritomi, Kenji ;Nishioka, Kazue ;Miyake, Susumu ;Kajii, Tadashi

• Book ID: 102700899
• Publisher: John Wiley and Sons
• Year: 1992
• Tongue: English
• Weight: 577 KB
• Volume: 43
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320430413

✦ Synopsis

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,XXl47,XX, + 14;46,XY/47,XY, + 18;46,XX/47,XX, + 18;46,XX/47,XX, + mar), while the other 4 in-

dividuals 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 (1132 to 1/256) in 7 individuals, using chromosomal heteromorphisms in the patients and their parents as markers. o 1992 wiley-USS, Inc.