Childhood‐onset schizophrenia case with 2.2 Mb deletion at chromosome 3p12.2–p12.1 and two large chromosomal abnormalities at 16q22.3–q24.3 and Xq23–q28

Childhood‐onset schizophrenia is rare, comprising 1% of known schizophrenia cases. Here, we report a patient with childhood‐onset schizophrenia who has three large chromosomal abnormalities: an inherited 2.2 Mb deletion of chromosome 3p12.2–p12.1, a de novo 16.7 Mb duplication of 16q22.3–24.3, and a de novo 43 Mb deletion of Xq23–q28.     

Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient

We report on a phenotypically normal 41‐year‐old azoospermic man with a 45 chromosomes karyotype including one normal chromosome 21, one normal chromosome 22, and a der(22)ins(22;21). Array CGH showed a 1.8 Mb terminal deletion of bands 21pter to 21q21.1 and a 341 kb terminal deletion on band 21q22.3.     

Duplication of 19q (13.2-13.31) associated with comitant esotropia: A case report

BACKGROUNDComitant esotropia is the most common form of strabismus. It is caused by heterogeneous environmental and genetic risk factors. The pure duplication of the long arm of chromosome 19 is a rare abnormality. Only 8 patients with partial trisomy of the long arm of chromosome 19q have been reported to date. Here, we describe a girl with pure duplication of 19q, who was diagnosed with congenital esotropia, microcephaly, and gallbladder agenesis. CASE SUMMARYThe patient was diagnosed with esotropia when she was 1-year-old. The Krimsky method showed +50 prism diopters in the primary gaze position. No additional abnormal findings were observed following slit lamp and fundus examination, but the features of the full-field electroretinogram showed a decreased amplitude and increased implicit times. Magnetic resonance imaging showed ventriculomegaly with thinning of the corpus callosum and splenium in her brain. A 4.42 Mb mosaic duplication within 19q13.2-q13.31 region (chr19:39,343,725 to 43,762,586) was detected by microarray comparative genomic hybridization. CONCLUSIONStrabismus is reported in many live borns with pure duplication of 19q. This important clinical characteristic indicates that the candidate genes fundamental for this phenotype may be narrowed to genes within the 19q13.3-q13.31 region. There were two candidate genes observed that may contribute to the comitant esotropia phenotype, namely XRCC1 (19:43,543,311) and SMG9 (19:43,727,991).     

Prenatal diagnosis of trisomy 6q25.3‐qter and monosomy 10q26.12‐qter by array CGH in a fetus with an apparently normal karyotype

We present the prenatal case of a 12.5‐Mb duplication involving 6q25‐qter and a 12.2‐Mb deletion encompassing 10q26‐qter diagnosed by aCGH, while conventional karyotype showed normal results. The genotype–phenotype correlation between individual microarray and clinical findings adds to the emerging atlas of chromosomal abnormalities associated with specific prenatal ultrasound abnormalities.     

染色体3q21q26畸变的特征分析

为了探讨inv（3q）（q21q26）和t（3;3）（q21;q26）畸变的细胞遗传学特征和临床特征及预后,收集临床病例并将患者的骨髓细胞24小时培养,常规方法制备染色体,G显带进行核型分析。结果表明：单纯inv（3q）和t（3;3）畸变少见,它们常合并-7/7q-、t（9;22）等其它染色体异常。涉及的疾病有骨髓增生异常综合征、急性髓系白血病以及慢性髓系白血病急变期。2例急性髓系白血病M5患者经多疗程化疗未获完全缓解,2例异基因造血干细胞移植患者均复发。结论：3q21q26畸变常合并预后差的染色体异常单体7/7q-,对这些患者常规治疗效果差,移植效果差,具有inv（3q）和t（3;3）畸变的患者预后不良,生存时间短。     

22q11.2微缺失综合征胎儿产前超声诊断学特征并文献复习

目的探讨22q11.2微缺失综合征胎儿的产前超声诊断学特征。 方法回顾性分析2019年7月29日于莱州市妇幼保健院超声科产前超声检查,并经羊水穿刺及病理解剖证实的1例22q11.2微缺失综合征胎儿的产前超声资料,并文献复习。 结果胎儿心脏超声声像图表现为心轴异常,膜周部室间隔缺损,主动脉增宽,骑跨于室间隔上,肺动脉细窄,主动脉弓位于气管的右侧,头臂动脉呈镜像分布,动脉导管缺如,胸腺发育不良。遗传学检查：22号染色体q11.21处缺失2.58Mb区域。病理解剖证实为法洛四联症、右位主动脉弓伴头臂动脉镜像分支、动脉导管缺如、胸腺发育不良。 结论22q11.2微缺失综合征是常见的基因异常综合征,表型多样,超声检查无创,方法简单易行,可为22q11.2微缺失产前诊断提供影像学依据。     

The clinical role of combined serum C1q and hsCRP in predicting coronary artery disease

ObjectiveC1q has been shown to be associated with coronary heart disease (CAD) and can co-deposit with C-reactive protein (CRP) in atherosclerotic plaques. However, few studies have been conducted between C1q, CRP parameters and CAD. The aim of this study is to explore the relationship between C1q and CRP parameters and assess their clinical significance in CAD.Methods238 total patients who underwent coronary artery angiography were enrolled and divided into control group (n = 65), stable CAD group (n = 47) and unstable angina group (UA group, n = 126). Patients’ data were collected from self-administered questionnaires and electrical medical records. The severity of coronary stenosis was presented by Gensini score. The relationship between C1q, CRP parameters and CAD were evaluated by multivariate regression analysis and their predicting performance were assessed by ROC analysis and odds ratio analysis.ResultsCompared with control group, C1q was showed significantly lower in stable CAD (P = 0.004) and UA groups (P = 0.008), while hsCRP was higher in UA group (P = 0.024). Serum C1q was weakly positively associated with hsCRP (r = 0.24, P < 0.001) but not correlated with Gensini score. Logistic regression identified C1q (OR: 0.87 per 10 mg/L, 95% CI: 0.79–0.95, P = 0.001) and hsCRP (OR: 1.08 mg/L, 95% CI: 1.01–1.15, P = 0.032) as independent determinants of CAD. Furthermore, combined C1q and hsCRP level showed higher discriminatory accuracy in predicting CAD than C1q (AUC: 0.676 vs 0.585, P = 0.101; NRI: 10.4%, P = 0.049; IDI: 3.9%, P < 0.001) or hsCRP (AUC: 0.676 vs 0.585, P = 0.101; NRI: 16.7%, P = 0.006; IDI: 5.8%, P < 0.001).ConclusionsReduced serum C1q and increased hsCRP are independently associated with CAD and could be potential predictors for CAD diagnosis. Furthermore, combined C1q and hsCRP showed better performance in predicting CAD than using single one.     

一株伴有t(6;11)(q27;q23)和p53基因异常的人单核细胞白血病细胞系SHI-1的建立及鉴定

目的建立人急性单核细胞白血病(AML—M5b)细胞系并研究其生物学特性。方法从1例AML—M5b患者白血病复发时的骨髓标本分离出单个核细胞，用液体培养法进行培养。采用瑞特染色、电子显微镜、细胞化学染色、流式细胞仪、R显带核型分析、逆转录-聚合酶链反应(RT—PCR)、荧光原位杂交(FISH)、半固体甲基纤维素集落培养、裸小鼠致瘤实验、荧光定量PCR、DNA荧光染色法及支原体肉汤培养法、短串联重复序列(STR)-PCR、p53基因的PCR扩增产物测序、多色FISH(M—FISH)和^3H—TdR掺入实验等方法对SHI-1细胞的生物学特性进行了鉴定、结果建立了1个可持续增殖的人单核细胞白血病细胞系SHI-1；形态学和免疫表型呈现典型的单核系特征；核型分析显示SHI-1细胞系有和患者复发时骨髓细胞完全相同的异常：46，XY，t(6；11)(q27；q23)，del(17)(p11)；RT—PCR检出MLL—AF6融合基因的转录本；FISH俭测结果显示存在6号和11号染色体之间易位、MLL基因的重排和p53基因的缺失；PCR产物测序结果显示1个p53等位基因6号外显子发生点突变ATC→ACC集落培养显示SHI-1细胞具有较强的集落形成能力；皮下接种4只裸小鼠均形成实体肿瘤；荧光定量PCR提示无EB病毒感染；DNA荧光染色法和支原体肉汤培养法术检出支原体；M—FISH证实传代至2003年3月的SHI-1细胞除有t(6；11)、del(17)(p11)外，还有t(7；13)所致的衍生7号染色体、18单体和来自8号染色体的微小体；STR—PCR结果显示SHI-1细胞系确实来自患者原代白血病细胞；IL4-和IL-15可促进SHI-1细胞的增殖，IFN-1、TNFα、IL-2、PDGF和IL-7可抑制SHI-1细胞的增殖。结论SHI-1是1个伴有t(6；11)(q27；q23)和P53基因异常的裸小鼠高致瘤性人单核细胞白血病细胞系，为白血病研究提供了一个新的有价值的工具。     

FISH Diagnosis of 22q11.2 Deletion Syndrome

The 22q11.2 deletion syndrome is the most common microdeletion syndrome. Although once thought to be separate disorders, cardiac anomalies, abnormal face, thymic hypoplasia, cleft palate, hypocalcemia, and chromosome 22 deletions (CATCH 22); DiGeorge syndrome; velocardiofacial syndrome; and conotruncal anomaly face syndrome are now known to be part of the same 22q11.2 deletion syndrome. Diagnosis of this syndrome is extremely challenging because of wide variability in phenotypic presentations. When the deletion is suspected, genetic testing is typically ordered. Conventional karyotyping is only capable of detecting a small percentage of chromosome deletions. However, fluorescence in situ hybridization (FISH) is capable of detecting many deletions and microdeletions. This article discusses the pathophysiology and presentation of chromosome 22q11.2 deletion syndrome. The use of FISH as a diagnostic tool is also described, including the FISH process, its use, and its accuracy and reliability in the diagnosis of chromosome 22q11.2 deletion syndrome in the fetus and/or newborn.     

Distal trisomy 10q syndrome,report of a patient with duplicated q24.31 – qter,autism spectrum disorder and unusual features

We report on a patient with distal trisomy 10q syndrome presenting with a few previously undescribed physical features, as well as, autism spectrum disorder (ASD). We recommend that patients with distal trisomy 10q syndrome should have a behavioral evaluation for ASD for the early institution of therapy.     

Collaboration of perioperative management in an adult patient with 22 q 11.2 deletion syndrome: A case report

A 24‐year‐old woman diagnosed with 22 q 11.2 deletion syndrome was referred for multiple extractions. Due to the syndrome, the patient had schizophrenia, cardiac anomalies, and maxillofacial complications. This case report suggested that a multidisciplinary team approach is important for perioperative management of patients with 22 q 11.2 deletion syndrome.     

微阵列比较基因组杂交用于智力低下和发育迟缓伴2q37微缺失患儿的分子诊断

目的寻找1例生长发育迟缓(development delay,DD)、智力低下(mental retardation,MR)患儿潜在的致病性基因组不平衡(genomic imbalance),分析其与表型的相关性;探讨高密度微阵列比较基因组杂交技术(array-based comparative genomichybridization,array-CGH)在临床分子遗传学诊断中的应用价值。方法用array-CGH技术对患儿进行全基因组高分辨率扫描分析,并用多重连接探针扩增技术(multiplex ligation-dependent probe amplification,MLPA)对新发现的基因组不平衡进行验证。结果该患儿外周血细胞G显带核型未见异常,array-CGH结果发现患儿2号染色体末端存在1个亚显微结构微缺失del(2q37.1-37.3,-9.3 Mb)。MLPA结果也验证了患儿该缺失区域的存在,患儿的基因组不平衡为新发的,但患儿父母该区域未见异常。文献查询与表型基因型分析证实了该缺失具有病理性意义。结论新发现的Del(2q37.1-37.3,-9.3Mb)是该患儿真正的致病原因;array-CGH技术在MR/DD患儿的分子遗传学诊断中具有重要价值。     

新生儿22q11.2缺失综合征5例临床及基因分析

目的 分析22q11.2缺失综合征(22q11.2 deletion syndrome, 22q11.2DS)的临床和基因特征,提高对新生儿期发病22q11.2DS的认识。方法 选择2018年2月-2021年10月新乡医学院第一附属医院新生儿科和中南大学湘雅二医院新生儿专科收治的22q11.2DS患儿,对其临床表现、诊断及基因检测结果等进行回顾性分析。结果 5例22q11.2DS新生儿患儿中男性3例,女性2例。早产儿2例,剖宫产4例。床旁胸片或超声发现胸腺小或缺如4例,术中发现胸腺缺如1例。4例有先天性心脏病(法洛四联征2例,室间隔缺损合并房间隔缺损2例)。感染不易控制2例,反复低钙血症2例。基因检测结果为新生变异4例,遗传自母亲1例;缺失片段大于2.45Mb的3例,缺失片段3.0Mb左右的2例。结论 新生儿期22q11.2DS主要表现为先天性心脏病和胸腺小或缺如,对怀疑该病的新生儿尽早行基因检测明确诊断,以指导进一步治疗。     

22q11 microdeletion studies in the heart tissue of an abortus involving a familial form of congenital heart disease

Microdeletion of chromosome 22 is responsible for DiGeorge syndrome, Velo Cardio Facial syndrome, and conotruncal defects. Here, we report on a case of microdeletion 22q11.2 in the heart tissue of a miscarried fetus in a family whose two children had died due to complex congenital heart disease. Fluorescence in situ hybridization (FISH) analysis in the couple revealed that the mother was mosaic for microdeletion of chromosome 22q11.2 in 10% of her peripheral lymphocytes. Prenatal diagnosis was offered to her in her third pregnancy. On routine ultrasonography at 10 weeks, the overall view of the heart was normal. However, before any further tests could be performed, she miscarried at 16 weeks. FISH studies on the heart tissue of the abortus revealed 22q11.2 microdeletion with two different cell lines. This suggests the importance of performing FISH studies when there is a history of congenital heart disease, even though ultrasonography shows a normal view of the heart.     

染色体22q11.2微缺失检测在先心病产前诊断中的应用

目的研究先心病胎儿中染色体22q11.2微缺失综合征的发生率,探讨在先心病胎儿中进行22q11.2微缺失产前诊断的必要性及可行性。方法选择2014年1月到2019年12月在本院妇产科经胎儿超声检查诊断为先天性心脏畸形的228例胎儿,行绒毛取样、羊膜腔穿刺或脐血穿刺获取胎儿细胞。综合应用染色体核型分析、多重连接依赖探针扩增、荧光原位杂交及单核苷酸多态性微阵列芯片等多种检测技术,对胎儿进行细胞遗传学水平的检测。结果 228例样本中发现染色体非整倍体64例,其中21三体25例、18三体30例、13三体4例、45,X 2例、48,XXY,+18 1例、染色体三倍体2例。对164例染色体核型未见异常者,行全基因组SNP微阵列芯片分析发现9例22q11.2微缺失,22q11.2微缺失在先心病胎儿中的发生率为5.49%。结论胎儿先天性心脏缺陷与染色体22q11.2微缺失有关。在先心病胎儿中行22q11.2微缺失产前诊断是必要可行的,对于优生优育、明确胎儿预后及再发生育风险评估有重要意义。     

伴有t（2；21；8）（p12；q22；q22）急性髓系白血病M2的MICM特征与诊断的探讨

本研究应用形态学、免疫学、细胞遗传学和分子生物学（MICM）分型技术联合检测伴有复杂变异核型t（2;21;8）（p12;q22;q22）的急性髓系白血病（AML—M2）,并探讨其特征及诊断意义。取患者骨髓涂片行瑞氏-姬姆萨染色和细胞化学染色进行骨髓细胞形态学FAB分型;流式细胞术（FCM）检测白血病细胞免疫表型;新鲜骨髓细胞短期培养法常规制备染色体标本,RHG显带技术进行核型分析,采用双色双融合AML／ETO探针及全染色体涂染（CP）探针检测有丝分裂中期荧光原位杂交（FISH）信号,并与常规R显带细胞遗传学检测结果进行比较分析,巢式RT—PCR检测AML1-ETO融合转录本。结果表明：病例1原始粒细胞伴嗜酸粒细胞及单核细胞比例增高;病例2符合以异常中幼粒细胞增高为主的AML—M2b;染色体核型分析结合FISH检测证实两例患者均存在t（2;21;8）（p12;q22;q22）复杂核型;AMLL／ETO融合基因转录本阳性,免疫表型显示CD34和HLA—DR共表达,伴CD19和cD56表达。结论：应用WHO提出的细胞形态学、免疫学、细胞遗传学和分子生物学技术（MICM）联合检测的实验室诊断方法对准确诊断复杂变异核型t（2;21;8）（p12;q22;q22）AML的分型具有重要意义。     

二例伴有t(3;5)(q25;q34)的骨髓增生异常综合征的临床和实验研究

目的：报道2例伴有t(3；5）（q25；q34）的骨髓增生异常综合征（MDS）。方法：骨髓细胞24h培养后按常规方法制备染色体，用R显带技术进行细胞遗传学分析，并以3号和5号染色体涂染探针进行荧光原位杂交（FISH）检测。结果：2例的临床和血液学改变符合MDS诊断，染色体核型分析揭示2例患者均有一致的核型异常：46，XY，t(3；5）（q25；q34）；其中1例患者的双色FISH检测证实1条3号染色体长臂和1条5号染色体长臂之间发生了相互易位。结论：t(3；5）（q25；q34）是一种少见的核型异常，它和MD有特别的联系，常有涉及三系的病态造血改变；染色体涂染技术是检测该易位的可靠手段。     

1例Angleman 综合征合并动脉导管未闭患儿的细胞分子遗传学研究

目的:对1例Angleman综合征合并动脉导管未闭患儿进行细胞分子遗传学研究.方法:用Affymetrix Cytogenetics 2.7M基因芯片、荧光原位杂交(florescence in situ hybridization,FISH)、G-显带、Ag-NOR染色等技术,对1例智力低下合并不语、兴奋、共济运动失...     

伴t(1;19)(q23;p13)和E2A-PBX1成人急性T淋巴细胞白血病一例报告附文献复习

目的 总结1例伴有t(1;19)和E2A-PBX1融合基因阳性的成人T细胞急性淋巴细胞白血病(ALL)患者的诊疗体会.方法 对1例成人T细胞ALL患者进行染色体核型分析,流式细胞术检测免疫表型,同时进行融合基因多重RT-PCR扩增.结果 患者染色体核型为47,XY,9p+,15p+,17q-,der(19),t(1;19)(q23;p13)[5]/46,XY[15].E2A-PBX1融合基因阳性表达.给予hyperCVAD(环磷酰胺+长春新碱+阿霉素+地塞米松)方案治疗后患者获血液学完全缓解,染色体核型复查为46,XY[10],E2A-PBX1融合基因检测阴性.结论 E2A-PBX1+ t(1;19)也可以发生于T细胞ALL,E2a-PBX1白血病细胞在不同的癌基因协同信号或微环境下转化方向可变.     

伴t(1;19)(q23;p13)和E2A-PBX1成人急性T淋巴细胞白血病一例报告附文献复习

目的 总结1例伴有t(1;19)和E2A-PBX1融合基因阳性的成人T细胞急性淋巴细胞白血病(ALL)患者的诊疗体会.方法 对1例成人T细胞ALL患者进行染色体核型分析,流式细胞术检测免疫表型,同时进行融合基因多重RT-PCR扩增.结果 患者染色体核型为47,XY,9p+,15p+,17q-,der(19),t(1;19)(q23;p13)[5]/46,XY[15].E2A-PBX1融合基因阳性表达.给予hyperCVAD(环磷酰胺+长春新碱+阿霉素+地塞米松)方案治疗后患者获血液学完全缓解,染色体核型复查为46,XY[10],E2A-PBX1融合基因检测阴性.结论 E2A-PBX1+ t(1;19)也可以发生于T细胞ALL,E2a-PBX1白血病细胞在不同的癌基因协同信号或微环境下转化方向可变.