Howell R T, Davies T
South Western Regional Cytogenetics Centre, Southmead Hospital, Bristol, U.K.
Prenat Diagn. 1994 Nov;14(11):1071-3. doi: 10.1002/pd.1970141110.
Cultures of a chorion biopsy taken from a pregnancy at risk of Bloom's syndrome revealed the high sister chromatid exchange frequency diagnostic of this rare disorder. To obtain the result, cultures were grown under standard conditions, with the addition of 10 microM 5'-bromodeoxyuridine for the final 48 h of incubation. This result demonstrates the feasibility of early prenatal diagnosis of Bloom's syndrome.
对一名有布卢姆综合征风险的孕妇进行绒毛膜活检培养，结果显示姐妹染色单体交换频率很高，这是这种罕见疾病的诊断依据。为获得该结果，培养物在标准条件下生长，并在培养的最后48小时添加10微摩尔的5'-溴脱氧尿苷。这一结果证明了布卢姆综合征早期产前诊断的可行性。
