通过荧光原位杂交显示一个15p + 变异体为t(Y;15)。
A 15p+ variant shown to be a t(Y;15) with fluorescence in situ hybridisation.
作者信息
Neumann A A, Robson L G, Smith A
机构信息
Cytogenetics Laboratory, Children's Hospital, Camperdown, NSW, Australia.
出版信息
Ann Genet. 1992;35(4):227-30.
PMID:1296520
Abstract
Prenatal diagnosis in two successive pregnancies revealed the karyotype 46,XX,15p+ (pat). Using the Y heterochromatic probe pHY3.4 and fluorescence in situ hybridisation, the variant 15 was identified as a t(Y;15)(q12;p11). Interphase scanning alone would have given a false result in both prenatal assessments and in the phenotypically normal father.
摘要
连续两次妊娠的产前诊断显示核型为46,XX,15p+（父源）。使用Y异染色质探针pHY3.4和荧光原位杂交技术，发现15号染色体变异为t(Y;15)(q12;p11)。仅进行间期扫描会在两次产前评估以及表型正常的父亲中得出错误结果。
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