Durandy A, Breton-Gorius J, Guy-Grand D, Dumez C, Griscelli C
INSERM U 132, Hôpital des Enfants-Malades, Paris, France.
Prenat Diagn. 1993 Jan;13(1):13-20. doi: 10.1002/pd.1970130104.
We have successfully undertaken the prenatal diagnosis of two hereditary syndromes associating albinism and immune defects. Because the genes responsible for these diseases have not yet been mapped and the immune abnormalities are too subtle to be diagnosed in utero, the prenatal diagnosis was made using a morphological approach. In the case of Chediak-Higashi syndrome, it was based on light microscopic examination of the hair shaft and on light and electron microscopic study of polymorphonuclear cells. In the syndrome associating immune deficiency and partial albinism, the Griscelli syndrome, only examination of the hair was feasible. The diagnosis was negative in 12 fetuses at risk and positive in four.
我们已成功对两种伴有白化病和免疫缺陷的遗传性综合征进行了产前诊断。由于导致这些疾病的基因尚未定位，且免疫异常过于细微，无法在子宫内诊断出来，因此采用形态学方法进行产前诊断。对于齐-希综合征，其诊断基于毛干的光学显微镜检查以及多形核细胞的光学和电子显微镜研究。在伴有免疫缺陷和部分白化病的格里塞利综合征中，仅对毛发进行检查是可行的。12名有患病风险的胎儿诊断结果为阴性，4名诊断结果为阳性。
