Ritter C L, Steele M W, Wenger S L, Cohen B A
Division of Medical Genetics, Children's Hospital, Pittsburgh, Pennsylvania.
Am J Med Genet. 1990 Jan;35(1):14-7. doi: 10.1002/ajmg.1320350104.
Our finding of chromosome mosaicism with a ring 22 in a retarded black boy with hypomelanosis of Ito prompted a review of this "syndrome." Most patients have a variety of non-dermal defects, particularly those affecting CNS function. Among karyotyped patients, most are chromosome mosaics of one sort or another. Hypomelanosis of Ito turns out to be a causable non-specific phenotype, i.e., a clinical marker for chromosome mosaicism of all different types in individuals with a dark enough skin to show lighter patches. Consequently, cytogenetic evaluation is indicated in all patients with this skin finding.
我们在一名患有伊藤色素减退症的发育迟缓黑人男孩中发现了带有22号环状染色体的染色体嵌合体，这促使我们对这种“综合征”进行了回顾。大多数患者有多种非皮肤缺陷，尤其是那些影响中枢神经系统功能的缺陷。在进行了核型分析的患者中，大多数是某种类型的染色体嵌合体。结果发现，伊藤色素减退症是一种可归因的非特异性表型，即对于皮肤足够黑以显示较浅斑块的个体而言，是所有不同类型染色体嵌合体的临床标志。因此，所有有这种皮肤表现的患者都需要进行细胞遗传学评估。
