Mücke J, Sandig K R, Trautmann U
Klin Padiatr. 1983 Sep-Oct;195(5):361-4. doi: 10.1055/s-2008-1034399.
Examination of spontaneous abortions often reveals deletion 13q-. The authors report on a case of de novo deletion in a female newborn with karyotype 46,XX,del (13) (q33) and discuss the problems of the mapping of clinical syndromes. The critical part of the 13q- syndrome is presumably the band 13q33 and/or 13q34. In clinically suspicious cases chromosome visualization should be done with reliable methods (R-banding) in order to detect even very small defects. The gene localisation of esterase D is obviously proximal of the terminal part of chromosome 13.
对自然流产的检查常常发现13号染色体长臂缺失（13q-）。作者报告了一例核型为46,XX,del(13)(q33)的女性新生儿新发缺失病例，并讨论了临床综合征定位的问题。13q-综合征的关键部位可能是13q33带和/或13q34带。在临床可疑病例中，应采用可靠的方法（R显带）进行染色体显象，以便检测出即使非常小的缺陷。酯酶D的基因定位明显在13号染色体末端部分的近端。
