Isochromosome 17q is involved in cancer development and progression. It occurs in combination with other chromosomal defects (complex cytogenetics), and rarely as a single mutation. The i (17q) rearrangement has been described as the most common chromosomal aberration in primitive neuroectodermal tumors and medulloblastomas.

2015年11月30日 · Here we studied 150 CLL samples and concentrated on the questions (i) if i(17q) can be detected reliably by MLPA and (ii) if i(17q) presence in patients with TP53 deletion is associated with more complex cytogenetic aberrations. An association with the clinical outcome would have been favorable as well; unfortunately this was not possible due ...

2012年7月17日 · In total, we observed partial 17q gain in 12 (15%) of a consecutive series of eighty diagnostic samples investigated with SNP array analysis, making partial 17q gains the second most common ...

2011年10月28日 · Isolated isochromosome (17q) is a rare cytogenetic abnormality in Philadelphia chromosome-negative myeloid neoplasms, usually myelodysplastic and/or myeloproliferative neoplasms (MDS/MPN). De novo acute myeloid leukemia (AML) with isochromosome 17q has rarely been reported. The frequency of genetic mutations is unknown. METHODS:

2017年11月28日 · Although i(17q) [i(17q)] is frequently detected in hematological malignancies, few studies have assessed its clinical role in chronic lymphocytic leukemia (CLL). We recruited a cohort of 22 CLL patients with i(17q) and described their biological characteristics, mutational status of the genes TP53 and IGHV and genomic complexity.

1999年6月24日 · Gain of genetic material from chromosome arm 17q (gain of segment 17q21–qter) is the most frequent cytogenetic abnormality of neuroblastoma cells. This gain has been associated with advanced...

1999年7月1日 · An isochromosome of the long arm of chromosome 17, i (17q), is the most frequent genetic abnormality observed during the disease progression of Philadelphia chromosome–positive chronic myeloid leukemia (CML), and has been described as the sole anomaly in various other hematologic malignancies.

大多数重复涉及17q (17q23→qter)远端三分之一，其断点从17q21到17q25.3不等，主要临床表型为发育迟缓、智力障碍、颅面部畸形、骨骼系统发育不良和先天性心脏病等 [1,2,3,4,5,6,7,8,9,10,11,12,13] 。既往文献报道多见17q末端重复伴随另一条染色体末端的缺失。

This study was about if presence of i(17q) could be indicative for a new subgroup in CLL with more adverse prognosis. As a result, TP53 deletion was detected in 18 out of 150 (12%) here studied CLL cases. Six of those cases (~33%) had the TP53 deletion accompanied by an i(17q).

i(17q)是由于17号染色体的短臂缺失后,两条17号染色体长臂在中心粒对接而形成.i(17q)被认为是慢性粒细胞白血病(慢粒)急变期或慢粒慢性期将发展为急变期的一个重要标记染色体,但在慢粒慢性期也可以检出i(17q).i(17q)不仅可以在慢粒中被检出,在其他疾病,例如急性非 ...