Nakamura Y, Nakashima H, Fukuda S, Hashimoto T, Maruyama M
Hum Pathol. 1985 Jul;16(7):754-6. doi: 10.1016/s0046-8177(85)80166-0.
The case of a 16-month-old female infant with bilateral cystic nephroblastomas, Dandy-Walker syndrome, microcephaly, bilateral cataracts, and cerebellar heterotopia is reported. The patient's older sister, who had had bilateral cystic nephroblastomas, botryoid sarcoma involving the vagina and urinary bladder, microcephaly, arhinencephaly, and bilateral cataracts, was described in a previous report. Chromosomal study in the present case confirmed trisomy 8 mosaicism (rate of mosaicism, 16 per cent). The familial occurrence and the chromosomal disorder suggest a syndrome involving genetic abnormalities.
报告了一名16个月大的女婴病例，该女婴患有双侧囊性肾母细胞瘤、丹迪-沃克综合征、小头畸形、双侧白内障和小脑异位。该患者的姐姐曾患有双侧囊性肾母细胞瘤、累及阴道和膀胱的葡萄状肉瘤、小头畸形、无脑回畸形和双侧白内障，先前已有报告描述。本病例的染色体研究证实为8号染色体三体镶嵌现象（镶嵌率为16%）。家族性发病和染色体异常提示存在一种涉及基因异常的综合征。
