Past and recent advances in sugarcane cytogenetics

The Saccharum genus comprises species with large and variable chromosome numbers, leading to challenges in genomic studies and breeding improvement. Cytogenetics, including classical and molecular approaches, has played a central role in deciphering the genome structure, classification, and evolution of the genus Saccharum. The application of fluorescence in situ hybridization using oligonucleotide probes significantly improved our understanding of the complex genomes of Saccharum species. This paper reviews the application and progress of cytogenetic techniques in Saccharum. Future applications of cytogenetics are discussed, as they could benefit both genomic studies and breeding of sugarcane as well as other plants with complex genomes.

Integrated analysis of comorbidity, pregnant outcomes, and amniotic fluid cytogenetics of fetuses with persistent left superior vena cava

BACKGROUND Persistent left superior vena cava(PLSVC)is the most common venous system variant.The clinical characteristics and amniotic fluid cytogenetics of fetuses with PLSVC remain to be further explored.AIM To develop reliable prenatal diagnostic recommendations through integrated analysis of the clinical characteristics of fetuses with PLSVC.METHODS Cases of PLSVC diagnosed using prenatal ultrasonography between September 2019 and November 2022 were retrospectively studied.The clinical characteristics of the pregnant women,ultrasonic imaging information,gestational age at diagnosis,pregnancy outcomes,and amniocentesis results were summarized and analyzed using categorical statistics and the chi-square test or Fisher’s exact test.RESULTS Of the 97 cases diagnosed by prenatal ultrasound,49(50.5%)had isolated PLSVC and 48(49.5%)had other structural abnormalities.The differences in pregnancy outcomes and amniocentesis conditions between the two groups were statistically significant(P<0.05).No significant differences were identified between the two groups in terms of advanced maternal age and gestational age(P>0.05).According to the results of the classification statistics,the most common intrac-ardiac abnormality was a ventricular septal defect and the most common extrac-ardiac abnormality was a single umbilical artery.In the subgroup analysis,the concurrent combination of intra-and extracardiac structural abnormalities was a risk factor for adverse pregnancy outcomes(odds ratio>1,P<0.05).Additional-ly,all abnormal cytogenetic findings on amniocentesis were observed in the comorbidity group.One case was diagnosed with 21-trisomy and six cases was diagnosed with chromosome segment duplication.CONCLUSION Examination for other structural abnormalities is strongly recommended when PLSVC is diagnosed.Poorer pregnancy outcomes and increased amniocentesis were observed in PLSVC cases with other structural abnor-malities.Amniotic fluid cytogenetics of fetuses is recommended for PLSVC with other structural abnormalities.

Appropriate Means to Vulgarize the Human Cytogenetics

Purpose: Insufficient epidemiological data on the prevalence of chromosomal abnormalities may hamper investments in research and interventions for better prevention and treatment of these major threats to the population in numerous countries. The aim of this literature review is to contribute to the popularization of cytogenetics. Methodology: This literature review is a text which contains, analyzes and organizes several referenced articles in French and English which have been selected from electronic databases. It provides a documentation of various activities and progress that have an interest in the field of cytogenetics. Results: In the context of cytogenetics, it is necessary to establish partnerships to strengthen infrastructures and produce quality results. The setting up of cytogenetic services and incentives for participatory research give space to the community in the production of knowledge and innovation, alongside researchers. It’s important to create biobanks, where samples of substances from the human body are collected for use in research into the causes and mechanisms of many diseases and their treatments. To carry out clinical trials aims at assessing the effectiveness of a therapeutic strategy, as is currently the case with the use of cytogenetic tests (karyotype, FISH, etc.) as tool of therapeutic decision and prognostic in cancer biology. The monitoring of the ethic of cytogenetic research projects allows protecting rights, security and welfare of subjects. To solve issues of data management and analysis such as the obstacle to the acquisition of tools and the insufficiency in the training of researchers. Furthermore, dissemination of research results will lead to better understanding of research results, greater public engagement in science and greater social respect for research. Conclusion: Cytogenetics can benefit from these actions such as the development of its research infrastructures and training programs for its workforce as well as the development of its clinical care. All this would have an impact on the population’s state of health.

骨髓增生异常综合征患者基因突变与临床特征相关性及预后

目的:探索骨髓增生异常综合征(MDS)基因突变与临床特征的相关性及预后分析。方法:收集兰州大学第一医院2015年6月至2023年2月期间131例MDS患者的临床资料,随访期间其中19例进展为继发性急性髓系白血病(sAML)。利用二代测序技术检测MDS疾病相关基因突变类型并绘制突变谱,结合患者临床资料分析其之间相关性及预后。结果:131例MDS患者中位年龄58(17-86)岁,男女比例约为1.3∶1。131例中共检测出148个基因突变、25种突变类型,其中U2AF1、ASXL1常与其它基因发生共突变,且分别与20q-和正常核型伴随出现。SETBP1和SRSF2多见于60岁以上患者,NPM1和WT1常见于60岁以下患者,老年患者的基因突变数目多于年轻患者。男性SF3B1和RUNX1基因突变发生率高于女性,女性DNMT3A基因突变发生率高于男性。MDS进展为sAML患者组的基因突变数目高于MDS组(1.8 vs 1.0个,P=0.006)。单因素、多因素分析结果显示,IPSS-R预后评分≥3.5分和TP53是MDS患者预后不良的危险因素。单等位基因TP53突变和野生型TP53患者OS优于双等位基因突变型(P=0.003);未转白患者OS优于sAML患者(P=0.01);移植患者OS明显优于未移植患者(P=0.036)。结论:基因突变与细胞遗传学指标和临床特征(外周血细胞数、性别、年龄)密切相关。IPSS-R预后评分、TP53是影响MDS患者OS的危险因素。

CEBPA突变CN-AML伴不同功能基因突变患者的临床特征及预后分析

目的:分析CEBPA突变正常核型急性髓系白血病(CN-AML)患者伴随基因突变发生的情况,及其对患者临床特征及预后的影响。方法:回顾性分析2013年6月至2020年6月就诊于山西医科大学第二医院的151例初诊CN-AML患者,通过第二代DNA测序技术检测34种常见血液肿瘤基因突变情况;比较CEBPA^(+)与CEBPA^(-)患者的伴随基因突变发生情况,分析不同功能的基因突变与CEBPA^(+)CN-AML患者临床特征及预后的相关性。结果:在151例CN-AML患者中共检测到55例(36.42%)CEBPA^(+)突变(包括36例CEBPA双突变,19例CEBPA单突变),其中41例(74.55%)与其他基因存在共突变,主要突变基因为:GATA214例(25.45%)、TET212例(21.82%)、FLT311例(20.00%)、NRAS 7例(12.73%)和WT15例(9.09%),部分病例同时存在2种及2种以上伴随基因突变。将突变基因按照功能进行分组后发现,CEBPA^(+)组较CEBPA^(-)组具有更低的组蛋白甲基化及染色质修饰基因伴随突变率(P=0.002,P=0.033)、更高的转录因子基因伴随突变率(P=0.037)。55例CEBPA^(+)CN-AML患者中,伴信号通路基因突变阳性组患者初诊时血小板计数低于突变阴性组(P=0.005),伴转录因子基因突变阳性组的骨髓原始细胞比例高于突变阴性组(P=0.003),伴DNA甲基化基因和染色质修饰基因突变阳性组的发病年龄均明显大于相应突变阴性组(P=0.002,P=0.008)。伴随信号通路基因突变阳性组CEBPA^(+)CN-AML患者的DFS短于阴性组(12个月vs未达到)(P=0.034)。伴DNA甲基化基因突变阳性组较阴性组患者具有更低的CR率(P=0.025),且OS和DFS均显著短于阴性组(中位OS:20个月vs未达到,P=0.006;中位DFS:15个月vs未达到,P=0.049)。伴组蛋白甲基化基因突变阳性组患者的OS显著短于阴性组(中位OS:12个月vs 40个月)(P=0.008)。多因素分析显示,骨髓原始细胞比例(HR=4.306)、伴DNA甲基化基因突变(HR=9.917)及组蛋白甲基化基因突变(HR=5.764)是影响CN-AML患者预后的独立危险因素。结论:CEBPA^(+)CN-AML患者有其特定的伴随基因表达谱,且伴随不同功能基因突变对患者的临床特征及预后有一定影响。

CLASSIFICATION OF NINETY-EIGHT ADULT CASES OF ACUTE LEUKEMIAS ACCORDING TO MORPHOLOGY,IMMUNOLOGY AND CYTOGENETICS

In the present study, 98 cases of acute leukemias (AL) were diagnosed and classified based on morphologic, immunologic and cytogenetic (MIC) features to assess their diagnostic value in AL. The results showed that: the conformity rate of cytomorphologic/cytochemical classification with MIC classification was 90.8%. For ALL, the conformity rate of immunologic classification with MIC classification was 95.6% while it was only 70.8% for AML. Of the 48 AML, 10 expressed lymphoid-lineage-associated antigens and 8 of 43 ALL expressed myeloid-lineage-associated antigens. Seven cases were diagnosed as hybrid acute leukemia according to Catovsky's scoring criterion. The clonal chromosomal aberrations were found in 70 cases, of them 46 cases showed characteristic changes including t(9; 22), t(4; 11), t(11; 14), t(8; 12), t(8; 14), 6q-, 9p- and t(15; 17), t(8; 21), inv(16), etc. These data suggested that MIC classification of acute leukemias could provide more diagnostic and biologic information than traditional FAB classification.

细胞遗传学联合流式细胞术在骨髓增生异常综合征诊断效果和危险分层及预后中的价值研究

目的探讨细胞遗传学联合流式细胞术在骨髓增生遗传综合征(MDS)患儿中的诊断效果、危险分层及预后的价值。方法选取2019年5月至2021年5月赣州市人民医院检验科收治的97例疑似MDS患者作为研究对象,常规给予细胞遗传学和流式细胞术检查,并以临床最终检查结果为金标准,分析细胞遗传学、流式细胞术在骨髓增生遗传综合征中的诊断效能;对患儿随访12个月,根据流式细胞术积分系统对患者进行危险分层评估,分析不同危险分层下患者的预后并进行相关性分析。结果细胞遗传学联合流式细胞术检查确诊65例,检查准确度为88.66%、灵敏度为89.71%、特异度为86.21%;细胞遗传学联合流式细胞术检查在MDS中检查准确度高于单一检查方法(P<0.05);灵敏度、特异度、阳性预测值和阴性预测值略高于单一细胞遗传学、流式细胞术检查,但其诊断效能差异无统计学意义。低危患者总体生存时间长于中危和高危患者,且中危患者总体生存时间长于高危患者,差异有统计学意义(P<0.05)。Pearson相关性分析结果显示,MDS患者分层与患者总生存时间呈负相关(r<0,P<0.05)。结论细胞遗传学与流式细胞术用于MDS患者中均具有较高的检出率,且二者联合检测能提高诊断效能,利用流式细胞术积分系统能完成患者危险分层,与患者预后存在强相关性。

《细胞遗传学》课程无纸化考试的实践研究

在高校课程中推行无纸化考试的考务模式,既高效实测了大学生学习的成效,又做到了考试的公平公正,同时减少了人口的流动,利于高校教学质量的提升和节约型社会的构建。相较于传统化的纸质考试,高校《细胞遗传学》课程无纸化考核的应用,未显著影响大学生的考试成绩,具有一定的优越性,为教学改革提供了高效服务,值得在数字化校园建设中广泛推广。

Current update on molecular cytogenetics, diagnosis and management of gastrointestinal stromal tumors

Gastrointestinal stromal tumors(GISTs)are the most common mesenchymal tumors of the gastrointestinal(GI)tract and are thought to arise from precursors of the interstitial cells of Cajal.GISTs can arise anywhere in the GI tract,but most commonly originate from the stomach and small intestine.The majority of GISTs occur as a result of activating mutations in two receptor protein tyrosine kinases:KIT and/or platelet-derived growth factor receptor-α.Mutational analyses allow for predicting patient prognosis and treatment response.Clinical presentations can vary from no symptoms,typical in the case of small incidentally found tumors,to GI bleeding,abdominal discomfort,and ulcer-related symptoms when the tumor is enlarged.Imaging plays a critical role in the diagnosis and management of these tumors with multiphasic computed tomography serving as the imaging modality of choice.Magnetic resonance imaging and positron emission tomography-computed tomography can serve as imaging adjuncts in lesion characterization,especially with liver metastases,and subsequent staging and assessment for treatment response or recurrence.Surgical resection is the preferred management for small GISTs,while tyrosine kinase inhibitors−imatinib mesylate and sunitinib malate−serve as crucial molecular-targeted therapies for locally advanced and metastatic GISTs.This review article highlights the clinical presentation,pathology and molecular cytogenetics,imaging features,and current management of GISTs.

Comparison of Mitoxantrone in Combination with Intermediate-dose Cytarabine versus High-dose Cytarabine as Consolidation Therapies for Young Non-APL Acute Myeloid Leukemia Patients with Favorable and Intermediate Cytogenetics

In this study,we compared the efficacy of mitoxantrone in combination with intermediate-dose cytarabine（HAM） with that of high-dose cytarabine alone（Hi DAC） as consolidation regimens in non-acute promyelocytic leukemia（APL） acute myeloid leukemia patients with favorable and intermediate cytogenetics.A total of 62 patients from Shenzhen People＇s Hospital were enrolled in this study.All patients enrolled received standard induction chemotherapy and achieved the first complete remission（CR1）.In these patients,24 received Hi DAC and 38 received HAM as consolidation.The median relapse free survival（RFS） and overall survival（OS） were similar between these two consolidation regimens.Even in subgroup analysis according to risk stratification,the combination regimen conferred no benefit in longterm outcome in patients with favorable or intermediate cytogenetics.However,in patients receiving HAM regimen,the lowest neutrophil count was lower,neutropenic period longer,neutropenic fever rate higher,and more platelet transfusion support was required.HAM group also tended to have higher rate of sepsis than Hi DAC group.According to our results,we suggest that combination treatment with mitoxantrone and intermediate-dose cytarabine has limited value as compared to Hi DAC,even in young non-APL AML patients with favorable and intermediate cytogenetics.

Cytogenetics and germplasm enrichment in Brassica allopolyploids in China

This paper reviews research advances in cytogenetics and germplasm innovation in Brassica allopolyploids, particularly oilseed rape（Brassica napus）, in China. Three naturally evolved Brassica allotetraploid species are cytologically stable but tend to preferentially lose several chromosomes from one subgenome when induced by alien chromosome elimination. A-subgenome is extracted from B. napus, and the ancestral Brassica rapa was restituted after the total loss of C-subgenome chromosomes. Genome-wide genetic and epigenetic alterations were observed in both natural and synthetic Brassica allotetraploids. B. napus was subjected to extensive interspecific hybridization with landraces of B. rapa and Brassica juncea, which exhibit abundant phenotype variations, to widen the genetic diversity in breeding and select numerous elite germplasm resources and cultivars; these cultivars include the representative Zhongyou 821, which also parented numerous other varieties. Novel B. napus genotypes were obtained using Brassica trigenomic hybrids and allohexaploids（2 n=54, AABBCC） by combining subgenomes from extant allotetraploids and diploids as bridge. Alien additions, substitutions, and translocations of the B. napus genome were developed by intergeneric/intertribal sexual and somatic hybridizations with several crucifers. Furthermore, mitochondrial DNA recombination promoted the production of novel cytoplasmic male sterile lines.

The Biodiversity of Shrimp Genus Artemia from Russian Lakes:Morphometric,Cytogenetics and DNA-analysis

Shrimps of genus Artemia are the inhabitants of continental and marine waters with salinity of 70 to 350 g/l and above.Artemia is able to survive in the conditions in which other animals cannot exist.This is due to adaptations:effective osmoregulation system,the ability to synthesize of respiratory pigment(hemoglobin)and diapauses cysts(Litvinenko at.al.,2009).Cysts of this

Brassica cytogenetics-a historical journey and my personal reminiscence

本文综述了芸薹属细胞遗传学从染色体数目鉴定到分子细胞生物学的发展历程。芸薹属细胞遗传学研究始于日本科学家N.Takamine对白菜型油菜Brassica rapa(syn.B.campestris)体细胞染色体数目的鉴定。俄国植物学家G.D.Karpechenko首次成功地合成了萝卜甘蓝(Raphanobrassica),这项成果的获得是实验室杂交合成新物种的里程碑。日本科学家Morinaga和Nagaharu U率先开展了基因组研究,揭示了芸薹属作物的细胞遗传学结构。二十世纪三十年代广泛开展了体细胞染色体的核型研究。随后,G.Rbbelen在1960年对粗线期染色体进行研究,提出了原始核型的遗传结构。但由于芸薹属染色体非常小,没有明显的形态标识,因此很难获得可靠的核型,近年来由于分子细胞遗传学的迅速发展,科学家采用以rDNA为探针的荧光原位杂交(FISH)技术成功地构建了分子核型。二十世纪50年代初期以来,由于组织培养技术的发展,人工合成了自然界已有的芸薹属栽培异源多倍体种,并进行了芸薹属作物和野生种之间的远缘杂交研究。1980年后发展起来的原生质体再生和融合技术更加促进了大量体细胞杂种的合成,包括相当数量的族间组合。虽然野生种质的基因尚待发掘,但这些实验大大拓展了异源倍性物种已有的遗传基础,增加了近缘野生种质资源的可利用价值。近年来开展的拟南芥和芸薹属物种之间的比较基因组学研究,不仅阐述了进化过程,也使芸薹和拟南芥成为近年来实验生物学的模式植物,为进一步开展细胞遗传学研究奠定了基础。

Clinical cytogenetics and molecular cytogenetics

The short report will be focused on helping our students to understand commonly used conventional and cutting edge cytogenetic techniques and their clinical applications, the advances and drawbacks of each technique, and how to pick the right test(s) for a specific patient in order to achieve a proper diagnosis efficiently and economically.

MICM分型在弥漫大B细胞淋巴瘤中的作用研究进展

弥漫大B细胞淋巴瘤(DLBCL)是常见的淋巴造血系统恶性肿瘤之一,具有高度异质性,也是非霍奇金淋巴瘤(NHL)中最常见的病理类型。随着基因组学、诊断技术和靶向治疗的发展,淋巴瘤的诊断分型不再局限于病理形态学和免疫表型,细胞遗传学和分子生物学逐渐在其中发挥越来越重要的作用,新出现的各种生物标志物也为深入了解淋巴瘤的发生与发展机制、优化治疗及评估预后奠定了基础。形态学、免疫学、细胞遗传学和分子学分型一起构成了淋巴瘤诊疗的MICM分型。现就MICM分型在DLBCL诊断、分型、分期、治疗及预后方面的作用进行综述。

小麦-滨麦衍生系18DM134的分子细胞遗传学及赤霉病抗性鉴定

滨麦[Leymus mollis(Trin.) Pilger]作为小麦的野生亲缘种之一,具有抗寒、抗旱、耐盐碱等优良特性,同时对多种小麦病害具有良好抗性,是小麦遗传改良的重要基因资源。本研究前期从八倍体小滨麦M842和硬粒小麦D4286的杂交后代中筛选出一个抗赤霉病的衍生系18DM134,为给该材料的利用提供依据,本研究利用细胞遗传学、原位杂交、液相芯片、分子标记等技术对其染色体组成进行鉴定,并对其农艺性状和赤霉病抗性进行调查。细胞学观察结果显示,18DM134的染色体构型为2n=42=21Ⅱ。原位杂交结果显示,18DM134含有38条小麦染色体、2条完整的Ns染色体以及2条易位染色体,其中整条6A染色体和5DS染色体缺失,2条Ns染色体片段易位到3DS染色体,2条3DL染色体易位到5DL染色体。液相芯片和分子标记分析结果显示,18DM134中来自滨麦的6Ns染色体替换了小麦6A染色体,部分5Ns染色体片段与3DS染色体发生了易位,5DS染色体缺失。因此,18DM134为小麦-滨麦代换易位系,其染色体组成为12A+14B+10D+2(6Ns)+2(T3DS-5Ns片段)+2(T3DL-5DL)。农艺性状和赤霉病抗性鉴定结果显示,18DM134具有矮秆、大穗和高千粒重等特性,且对小麦赤霉病具有良好的抗性。因此,18DM134可应用于小麦赤霉病抗性的遗传改良和育种研究。

1986~2022年广西梧州地区遗传咨询者细胞遗传学检测结果及变化分析

目的探讨梧州地区遗传咨询者染色体异常与临床表型的关系及异常核型分布与变化的特点。方法选取1986年1月~2022年10月前来梧州市工人医院进行遗传咨询的4346例患者,通过外周血淋巴细胞培养及G显带法对染色体核型进行分析,并分析Ⅰ阶段(1986~2019年),Ⅱ阶段(2020~2022年)异常核型的分布与变化的特点。结果4346例遗传咨询者中检出染色体异常304例,异常核型检出率6.99%,其中21三体检出率最高,为3.18%(138/4346),占所有异常核型的45.39%(138/304)。异常核型构成比依次为21三体、平衡易位、47,XXY,45,X,罗氏易位、染色体片段缺失/重复、47,XXX和倒位。此外,检出13三体3例,19三体1例,8三体1例,47,XN,+mar 5例,性染色体不一致嵌合7例,性反转7例。平衡易位、倒位的构成比在Ⅱ阶段(2020~2022年)分别为24.59%,8.20%,高于Ⅰ阶段(1986~2019年)的9.88%,0.82%;而21三体的构成比在Ⅱ阶段(2020~2022年)为14.75%,低于Ⅰ阶段(1986~2019年)的53.09%,两阶段比较,差异均具有统计学意义(χ^(2)=9.439,8.735,28.904,均P<0.05)。而47,XXY,45,X,罗氏易位等异常核型的构成比在两阶段间的比较,差异均无统计学意义(χ^(2)=0.192,0.000,1.313,均P>0.05)。在Ⅱ阶段(2020~2022年),常染色体数目异常及片段缺失/重复的患者在1岁之前被确诊占78.57%,高于Ⅰ阶段(1986~2019年)的63.38%,但两阶段比较,差异无统计学意义(χ^(2)=0.709,P=0.400)。在Ⅱ阶段(2020~2022年),性染色体异常的患者在12岁之前被确诊占27.78%,高于Ⅰ阶段(1986~2019年)的13.11%,但两阶段比较差异无统计学意义(χ^(2)=1.238,P=0.266)。结论梧州地区遗传咨询者中异常核型检出率较高,尤其是21三体。近三年21三体的构成比下降,平衡易位、倒位的构成比显著上升,核型异常患者的确诊年龄有提前趋势。染色体异常是导致该地区的遗传咨询者存在出生缺陷、生长发育迟缓及不良孕产史等症状的原因之一,对具有相应临床指征的患者行染色体核型分析具有重要临床意义。

中国原产十字花科植物诸葛菜的基因组及遗传研究

诸葛菜(Orychophragmus violaceus(L.)O.E.Schulz,别称二月兰)为我国原产的十字花科观赏植物,也是芸苔属作物遗传改良的种质资源。本研究总结了诸葛菜的细胞遗传学、与芸苔属栽培种杂种的细胞学行为、性状的染色体定位、长链双羟基脂肪酸的发现等方面的研究进展。诸葛菜(2n=24)的基因组较大(大约1.3 Gb)、染色体较长、染色均匀。诸葛菜及其单倍体的减数分裂配对行为揭示出其基因组的同源多倍体性质。最新的基因组测序结果也表明,诸葛菜二倍体祖先具有x=7的tPCK核型,其在大约600~800万年前经历了一次特异的基因组四倍化事件,然后经过染色体重组及着丝粒失活产生现在n=12的基因组。诸葛菜(父本)与芸苔属6个栽培种(母本)的属间杂种所表现出的母本特异的细胞学行为,与双亲的基因组结构和固有的染色体行为有关;诸葛菜染色体因表现体积较大与染色较深的特征,而易于与芸苔属染色体相区别。通过创建甘蓝型油菜-诸葛菜附加系,将诸葛菜的锯齿叶、基部多分枝、紫花、双羟基脂肪酸合成等几个性状定位到特定的染色体上。诸葛菜种子油中富含长链双羟基脂肪酸,具有比蓖麻油更好的润滑效果。诸葛菜还具有潜在的药用价值。最后,对今后诸葛菜的研究方向及利用进行了讨论。

Laboratory Diagnosis of Acute Leukemia in Kenya: The Gaps and Opportunities

Acute leukemia (AL) is a malignant disease of the bone marrow in which hematopoietic precursors are arrested in an early stage of development. The diagnosis of leukemia and lymphomas, beyond morphology, is limited in low-resource countries including Kenya. Morphological diagnosis includes Cytological and Histological assessment of blood, bone marrow aspirates and tissues on suspected Acute leukemia patients. The World Health Organization (WHO, 2016) international guidelines on Acute leukemia diagnosis recommend that cytogenetic analysis, appropriate molecular genetics, Fluorescent in situ Hybridization (FISH) testing, and flow cytometric immuno-phenotyping should be done in addition to a morphologic assessment of Acute Leukemia. In facilities where resources are relatively available, immunophenotypic and genetic features have resulted not only in providing a more accurate leukemia diagnosis but also in identifying antigens or genes that can then be targeted for therapy. This article will look at the gaps in the diagnosis of Acute leukemia in low-resource settings like Kenya and opportunities available to improve diagnosis.

Phenotypic and cytogenetic features of an Iranian child with tetrasomy 18p syndrome:A case report

BACKGROUND Tetrasomy 18p is a rare chromosome abnormality disorder known to have consid-erable variability in clinical features and gathering data from different cases will help clinicians and researchers learn about its genotype-phenotype relationship and diagnosis.CASE SUMMARY Herein,we have reviewed the literature on phenotypic features of this disorder and described the phenotypic and cytogenetic features of a girl of early childhood with tetrasomy 18p for the first time from Iran.This patient showed a strong sense of smell(a unique feature not reported previously for this syndrome),had clenched hand,pes planus,forward head posture in walking and hirsutism(dysmorphic features less reported),and showed 10 clinical features that are generally observed in previously reported cases,including developmental delay/intellectual disability,triangular face,smooth philtrum,feeding difficulties,hypotonia,epicanthus,strabismus,history of constipation,growth retardation and foot anomalies.G-banding chromosome analysis from peripheral blood revealed an abnormal female karyotype with a small marker chromosome(47,XX,+mar),and oligo-array comparative genomic hybridization displayed a gain of 14Mb of the 18p arm containing 56 Online Mendelian Inheritance in Man(OMIM)genes in this patient.Overall,this patient seems to have mild phenotypes.CONCLUSION This Iranian tetrasomy 18p child displays a uniquely strong sense of smell,some less reported dysmorphic features and ten features generally reported.