Blennow E, Bui T H, Wallin A, Kogner P
Department of Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
Am J Med Genet. 1996 Oct 2;65(1):60-7. doi: 10.1002/(SICI)1096-8628(19961002)65:1<60::AID-AJMG10>3.0.CO;2-P.
A rare monosomy 1p36.31-33-->pter was found in a child with physical anomalies, psycho-motor retardation, and seizures. Cytogenetic investigation suggested an unbalanced translocation between 1p and an acrocentric chromosome, but the rearrangement was difficult to assess accurately using conventional chromosome banding techniques. The half-cryptic translocation was further characterized using fluorescence in situ hybridization, and the aberrant chromosome 1 was shown to be a derivate of a paternal reciprocal translocation t(1;15) (p36.31-33;p11.2-12). The breakpoints on chromosome 1 and 15 were defined in detail using locus specific probes. The rearrangement did not include the region on chromosome 1p which previously has been suggested to predispose to the development of neuroblastoma in a case with a constitutional translocation. At 3 6/12 years, the patient has no clinical signs of this disease, which illustrates the prognostic significance of this investigation.
在一名有身体异常、精神运动发育迟缓及癫痫发作的儿童中发现了罕见的1号染色体短臂36.31 - 33区至短臂末端的单体型。细胞遗传学研究提示1号染色体短臂与一条近端着丝粒染色体之间存在不平衡易位，但使用传统染色体显带技术难以准确评估这种重排。利用荧光原位杂交技术进一步对这种半隐匿性易位进行了特征分析，结果显示异常的1号染色体是父源性相互易位t(1;15)(p36.31 - 33;p11.2 - 12)的衍生染色体。使用位点特异性探针详细确定了1号和15号染色体上的断点。该重排不包括1号染色体短臂上先前在一例具有先天性易位的病例中被认为易患神经母细胞瘤的区域。在3岁6个月时，该患者没有这种疾病的临床症状，这说明了这项研究的预后意义。
