1991年9月15日 · We have studied three children with de novo terminal deletion of the long arm of chromosome 1 (46,XX,del (1) (q43)). They all have minor anomalies and neurological signs (severe psychomotor developmental delay, generalized hypotonia, and seizures) that have been described previously.

2019年11月25日 · Gain of chromosome 1q (+1q) is commonly identified in multiple myeloma and has been associated with inferior outcomes. However, the prognostic implication of +1q has not been evaluated in the...

2013年5月1日 · The balanced translocation t (1;1) (p36;q21) involving the DUSP10 / PRDM16 genes is associated with myeloid disorders; the unbalanced der (1)t (1;1) involving 1q11-32 breakpoints may be observed in both myeloid and lymphoid proliferations and is frequently associated with a highly complex karyotype (Duhoux et al., 2011; Noguchi et al., 2007).

Gain or amplification of 1q21 (1q21+) occurs in around 40% of patients with MM and generally portends a poor prognosis. Patients with MM who harbor 1q21+ are at increased risk of drug resistance, disease progression, and death. New pharmacotherapies with novel modes of action are required to overcome the negative prognostic impact of 1q21+.

2011年2月24日 · Chromosomal microarray (CMA) using oligonucleotide arrays or SNP genotyping arrays can detect the common deletion in a proband. The ability to size the deletion depends on the type of microarray used and the density of probes in the 1q21.1 region.

2008年10月27日 · Here we report on a patient with an interstitial deletion on the long (q) arm of chromosome 1 who presents with a unique constellation of anomalies including brachydactyly type E, Müllerian agenesis, growth hormone deficiency, as well as other abnormalities.

Here we found that developmental endothelial locus-1 (DEL-1), a secreted protein that inhibits leukocyte-endothelial adhesion and inflammation initiation, also functions as a non-redundant downstream effector in inflammation clearance.

del（1p）（诊断时发生率10%） 经常与gain（1q） 共存，与自体 干细胞 移植患者不良结果相关，可能与1p32位点上的CDKN2C和FAF1、1p12位点上的FAM46C、1p22位点上的RPL5和EVI5基因缺失有关。

2023年6月6日 · In this retrospective study, the authors found that del (1p13.3) is associated with inferior progression-free survival (PFS) and overall survival (OS) compared to patients without del (1p13.3). Additionally, the presence of del (1p13.3) with concomitant +1q21 resulted in worse survival than the presence of either abnormality found in isolation.

We have evaluated three children with del (1q) syndrome with special interest in their neurological problems. All of these patients had similar autistic-like behavior and unusual phonations that have not been described previously.