Three cases ( 1 male and 2 females) of incontinentia pigmenti were studied on karyo-type and clinical features. 对遗传咨询中的3例(女2例,男1例)色素失禁症,进行细胞遗传学和临床研究。
Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization 1例荧光原位杂交检测存在XXY镶嵌的男孩出现色素失禁症
NEMO Δ 4-10 deletion of NEMO gene in Chinese incontinentia pigmenti cases 色素失禁症NEMOΔ4~10基因片段缺失的初步研究
A Case of Incontinentia Pigmenti to Follow-up Survey for Ten Years 色素失禁症随访10年1例
New Advances in the Study of Incontinentia Pigmenti 色素失调症研究进展
Objective To summarize the manifestations of incontinentia pigmenti, especially the characteristics in skin, nerve system, eyes and gene mutations. 目的总结色素失禁症患儿临床特征,特别是皮肤、神经系统、眼部、基因改变的特点,提高对该病的认识。