色素失禁症的细胞遗传学研究(附3例报告)

INCONTINENTIA PIGMENTI:KARYOTYPE AND CLINICAL FEATURES OF 3 CASES

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。3例患儿先后于生后不久和出生1周内发病,经确诊为色素失禁症.通过染色体核型分析,2例女性均为46,XX,1例男性则为47,XXY,后者实属罕见。文内就色素失禁症的细胞遗传学有关问题进行了分析和讨论。

Three cases(1 male and 2 females)of incontinentia pigmenti were studied on karyo-type and clinical features.The patients had typical pigmented skin lesions associated with va-rious abnormalities of the central nervous system,eye,tooth and skeleton.A male newborninfant with incontinentia pigmenti and karyotype 47,XXY was first detected.It is thoughtthat from family study the action of a single mutant gene lethal to males might be respon-sible for this syndrome.Whether the gene is X-linked dominant is discussed.