Eggermann T, Mau U, Klein-Vogler U, Kendziorra H, Mackensen-Haen S, Sieverding L, Enders H, Kaiser P
Abteilung für Klinische Genetik, Institut für Anthropologie und Humangenetik, Eberhard-Karls-Universität Tübingen, Germany.
Clin Genet. 1998 Apr;53(4):293-7. doi: 10.1111/j.1399-0004.1998.tb02699.x.
We present an unusual case of monosomy 17p13-pter and monosomy Xp22.2-pter due to a dicentric translocation chromosome X/17 in a female newborn with severe anomalies. The karyotype was identified as 45,X,dic(X;17)(p22.2;p13) by high resolution GTG banding in lymphocytes. R banding showed the translocational X-chromosome to be late replicating, and there was no spreading of X-inactivation onto the autosomal segment. Furthermore, it could be demonstrated by C banding that the X-centromere in the translocation chromosome was inactive. The results of short tandem repeat (STR) typing confirmed the partial monosomy X and 17 as well as the paternal origin of the two chromosomes X and 17 which were involved in the translocation chromosome formation. The cell stage of the structural rearrangement was consistent with paternal meiosis as well as with postzygotic mitosis. The monosomy was confirmed in lymphocytes and fibroblasts, and mosaicism was not detected.
我们报告了一例因X/17双着丝粒易位染色体导致17p13 - pter和Xp22.2 - pter单体性的罕见病例，该女性新生儿有严重畸形。通过淋巴细胞高分辨率GTG显带，核型被鉴定为45,X,dic(X;17)(p22.2;p13)。R显带显示易位的X染色体复制延迟，且X染色体失活未扩散到常染色体区段。此外，C显带证实易位染色体中的X着丝粒无活性。短串联重复序列（STR）分型结果证实了X和17号染色体的部分单体性，以及参与易位染色体形成的两条X和17号染色体的父系来源。结构重排的细胞阶段与父系减数分裂以及合子后有丝分裂一致。淋巴细胞和成纤维细胞中均证实存在单体性，未检测到嵌合体。
