46,XX,t(5;7)(q35;q32)inv(9)(p11q13)染色体异常一例

患者　女 ,2 7岁 ,结婚 5年。孕 4次 ,第 1胎孕 4 0多天 ,行“药流术”;第 2胎孕 5 0多天 ,行“刮宫术”;第 3、4胎孕 5 0多天 ,无明显诱因出现阴道出血 ,B超提示“宫内妊娠”,行保胎治疗无效后流产。患者表型正常 ,妇科检查未见异常。丈夫表型正常。非近亲结婚。妊娠期间无有毒、有害物质接触史、无畏寒、发热等不适病史 ,无服用药物史。患者父母表型正常 ,无不良生育史 ,生育 3女 ,表型均正常。两个妹妹无不良生育史 ,一个妹妹生一个表型正常男孩 ,另一个妹妹生两个表型正常男孩。因患者家人均在外地 ,无法追查异常染色体来源。细胞遗传…     

46,XX,inv(9)(q13q22)伴习惯性流产一例

患者　女 ,31岁。因习惯性流产于 2 0 0 1年 3月 12日就诊。患者怀孕 3次 ,第 1胎孕 5 0余天时 B超提示孕囊内未见胚芽 ;第 2胎孕 4月时 B超提示宫内死胎 ;第 3胎孕 6 0余天时 B超提示孕囊内未见胚芽 ,均诊断为难免流产行清宫术。患者父母非近亲婚配 ,患者为第 2胎 ,足月顺产。其母亲孕期无特殊用药史 ,无毒物和放射线接触史。患者有一姐一弟 ,发育正常 ,均已生育健康后代。二级亲属中无类似病史。查体 :患者身高 16 0 cm ,体重 5 0 kg,表型、智力正常。妇科检查外生殖器及阴毛正常 ,阴道及子宫附件检查均无明显异常。实验室检查 :血生化…     

一例8号染色体三体继发t(9;22)(q34;q11)的急性粒细胞性白血病

患者男,69岁,因乏力、间断皮肤青紫、齿龈出血1个月来院就诊。查体:轻度贫血貌,浅表淋巴结不肿大,胸骨无压痛,腹软,肝脾肋下未扪及。血象:Hb75g/L、白细胞2×109/L、血小板26×109/L。骨髓象:有核细胞增生活跃,原粒73%、早幼粒1%、单核细胞4.5%。POX染色强阳性28%,弱阳性7%,阴性65%,红系明显受抑,巨核细胞数全片0,血小板显著减少。本例按FAB标准诊断为急性粒细胞性白血病(acute myeloidleukemia,AML)-M2a。流式细胞仪检测白血病细胞的表面抗原。采用RHG显带技术进行核型分析,染色体异常按《人类细胞遗传学国际命名体制(ISCN)》描述…     

B淋巴母细胞淋巴瘤伴t(9;22)(q34;q11.2)1例

正患者男性,66岁,因发现双侧颈部肿块20余天入院,查体:侧颈部、腹股沟可触及多发肿大淋巴结,最大约2 cm×3cm,压痛,与周围组织无粘连,肝脏肋下未触及,脾脏肋下约2 cm可触及。骨髓细胞学:骨髓增生明显活跃,淋巴细胞占86%,其中原始淋巴细胞占83.6%,胞核圆形、不规则形,扭曲折叠,核染色质疏松。初步诊断为淋巴瘤。患者发病后随     

46,XX,inv(18)(p11q22)伴习惯性流产一例

患者 女，24岁。因习惯性流产于2004年10月7日就诊。患者怀孕4次，均在3个月内发生死胎而引产。孕期无特殊用药史，无毒物和放射性物质接触史。患者父母非近亲婚配，其妹妹已生育一正常女孩，无流产史。     

46,X,inv(X)(p22;q12)伴自然流产一例

患者　女 ,2 8岁 ,结婚 4年 ,早期自然流产 2次。查体 :身高1.6 3m,体重 4 8kg,眼距宽。患者月经正常。夫妇智力正常 ,非近亲结婚 ,细胞遗传学检查 :外周血制备染色体 ,G显带分析 ,患者核型为 4 6 ,X,inv(X) (pter→ p2 2∷ q12→ p2 2∷ q12→ qter)。家系调查 :患者父母非近亲婚配 ,其母曾自然流产 2次 ,其他家庭成员未做染色体检查。讨论　该患者为染色体倒位携带者 ,因无遗传物质丢失 ,一般表型正常。但发生倒位后 ,其结构上发生了重排的染色体 ,根据在配子形成中同源染色体节段相互配对的规律 ,将形成特有的倒位圈 ,理论上可形成 4种…     

以inv(11)(p15q22)为特征的急性红白血病两例

目前的资料表明,绝大多数急性非淋巴细胞白血病(急非淋)都有克隆性染色体异常,其中某些异常与特定的急非淋亚型相关,例如t(8;21)和M2,t(15;17)和M3,inv(16)和M4Eo,t/del(11q23)和M5等,因而称之为特异性染色体重排。至于急性红白血病(M6),虽然常显示复杂的核型异常,但尚未发现一致的特异性染色体重排。现将我们发现的两例伴有inv(p15q22)的M6患者报道如下。1　临床资料例1,女,35岁。因乏力、纳差3月余,加重1个月伴头昏、心悸入院。查体:重度贫血貌,胸骨无压痛,全身皮肤无出血点,脾肋下两指,肝及淋巴结不肿大。血象:白细胞23.9×109/L,血…     

染色体异常47,XX,+21,inv(10)(p11q21) 世界首报一例分析

病例:患者为一女孩,3岁,汉族.系第3胎第1产,足月分娩.先天愚型面容,语言功能低下,智力较同龄儿低.父母表现正常,非近亲婚配.母34岁,有敌敌畏等农药接触史,孕前附件炎用药,孕期有过上感输液.父34岁,否认疾病史、不良药物接触史.     

继发不孕女性1例的Fra(16)(q22)脆性位点的遗传学分析

目的探讨1例继发不孕女性Fra(16)(q22)(FRA16B)脆性位点的遗传学机制。方法选取2021年10月5日因继发不孕就诊于成都市妇女儿童中心医院的1例28岁的携带FRA16B女性患者作为研究对象, 采集其外周血样进行染色体G显带核型分析、单核苷酸多态性微阵列检测(SNP-array)、QF-PCR以及荧光原位杂交(FISH)检测。结果患者共发现5种染色体核型, 具体为mos 46, XX, Fra(16)(q22)[42]/46, XX, del(16)(q22)[4]/47, XX, del(16), +chtb(16)(q22-qter)[4]/ 46, XX, tr(16)(q22)[2]/46, XX[71], 但其SNP-array、QF-PCR和FISH检测结果均未见明显异常。结论通过遗传学手段发现了1例FRA16B女性患者。上述发现有助于其后续怀孕时的遗传咨询。     

一例伴t(14;14)(q11;q32)易位的B细胞急性淋巴细胞白血病的临床和分子细胞遗传学研究

目的 报告1例伴t(14;14)(q11;q32)易位的罕见B细胞急性淋巴细胞白血病(B-lineage acute lymphoblastie leukemia,B-ALL)病例,阐明其临床和分子细胞遗传学特征.方法 分析1例伴t(14;14)(q11;q32)易位B-ALL患者的临床资料;将患者骨髓细胞24h培养后按常规方法制备染色体标本,采用R显带技术进行核型分析;分别应用IGH双色断裂点分离探针、CEBPE双色断裂点分离探针、4号全染色体涂染探针和ALL组合探针进行荧光原位杂交(fluorescence in situ hybridization,FISH)分析.结果 常规细胞遗传学分析显示患者核型为47,XX,+4,t(14;14)(q11;q32)[20],FISH分析进一步证实了这种核型异常.IGH双色断裂点分离探针FISH分析表明t(14;14)(q11;q32)易位累及IGH基因,CEBPE双色断裂点分离探针FISH分析提示t(14;14)(q11;q32)易位中IGH的伙伴基因为CEBPE基因.结论 在B-ALL中t(14;4)(q11;q32)易位同时累及IGH和CEBPE基因为少见的再现性遗传学异常,该异常可定义B-ALL中一种新的亚型.伴有t(14;14)(q11;q32) IGH/CEBPE易位的B-ALL患者可能预后较好.     

Pediatric acute myeloid leukemia with t(7;21)(p22;q22)

The t(7;21)(p22;q22) resulting in RUNX1‐USP42 fusion, is a rare but recurrent cytogenetic abnormality associated with acute myeloid leukemia (AML) and myelodysplastic syndromes. The prognostic significance of this translocation has not been well established due to the limited number of patients. Herein, we report three pediatric AML patients with t(7;21)(p22;q22). All three patients presented with pancytopenia or leukopenia at diagnosis, accompanied by abnormal immunophenotypic expression of CD7 and CD56 on leukemic blasts. One patient had t(7;21)(p22;q22) as the sole abnormality, whereas the other two patients had additional numerical and structural aberrations including loss of 5q material. Fluorescence in situ hybridization analysis on interphase cells or sequential examination of metaphases showed the RUNX1 rearrangement and confirmed translocation 7;21. Genomic SNP microarray analysis, performed on DNA extracted from the bone marrow from the patient with isolated t(7;21)(p22;q22), showed a 32.2 Mb copy neutral loss of heterozygosity (cnLOH) within the short arm of chromosome 11. After 2‐4 cycles of chemotherapy, all three patients underwent allogeneic hematopoietic stem cell transplantation (HSCT). One patient died due to complications related to viral reactivation and graft‐versus‐host disease. The other two patients achieved complete remission after HSCT. Our data displayed the accompanying cytogenetic abnormalities including del(5q) and cnLOH of 11p, the frequent pathological features shared with other reported cases, and clinical outcome in pediatric AML patients with t(7;21)(p22;q22). The heterogeneity in AML harboring similar cytogenetic alterations may be attributed to additional uncovered genetic lesions.     

Partial trisomy 3q syndrome inherited from familial t(3;9)(q26.1; p23)

A five-year-old girl was referred to prometaphase chromosome analysis because of mental retardation, facial dysmorphic features suggestive of Cornelia de Lange syndrome, cleft palate and additional minor congenital malformations of the cardiac system and fingers and toes. A familial balanced translocation (3;9)(q26.1; p23) was found. The karyotype of the proposita was 46,XX,der(9),t(3;9)(q26.1;p23). Thus the patient was trisomic for 3q26.1-qter and monosomic for 9p23-pter. The unbalanced chromosome constitution was not detected by standard Q-banding analysis shortly after birth. The karyotype was misdiagnosed as 46,XX,9(p+) in the proposita and her mother, and thought to be a normal variant of chromosome 9. The repeated cytogenetic study led to the diagnosis of the translocation and to the possibility of prenatal diagnosis in the translocation carriers. A survey of 22 published cases of dup(3q) showed that nearly 60% were secondary to familial balanced rearrangements with an excess of maternally derived abnormal chromosomes 3. Red blood cell galactose-1-phosphate-uridyltransferase (GALT) activity was normal in the patient, consistent with previous assignment of the gene locus for GALT to 9p13 (Shih et al. 1982).     

Jacobsen Syndrome and Beckwith-Wiedemann Syndrome Caused by a Parental Pericentric Inversion inv(11)(p15q24)

Here we report on a male infant presenting the typical pattern of Jacobsen syndrome including trigonocephaly, thrombocytopenia, congenital heart defect, urethral stenosis, and partial agenesis of the corpus callosum. Conventional karyotyping, FISH, SKY and CGH analyses showed that the region distal to the MLL locus on 11q23 was lost and replaced by the distal region of 11p, leading to a partial trisomy of 11p and a partial monosomy of 11q. According to ISCN (1995) the karyotype can be described as 46,XY,add(11)(q2?3). ish 11ptel(D11S2071x3),11qtel(VIJyRM2072x1). Array‐CGH analysis allowed us to narrow down the breakpoints to 11p15.1 and 11q24.1. Methylation analyses of genes located on 11p showed an increased level of the non‐methylated paternal allele of the KCNQ1OT1 gene, confirming the concomitant presence of Beckwith‐Wiedemann syndrome (BWS). The phenotype resulting from the 11q deletion seems to dominate the phenotype due to the distal 11p trisomy. Investigation of the parents revealed that this chromosomal rearrangement was caused by a paternal pericentric inversion inv(11)(p15q24). Since chromosomal aberrations like the one described here can easily be overlooked during routine chromosome analysis, combined FISH analysis using subtelomeric and possibly additional probes should be applied if there is any doubt about the integrity of telomeric regions.     

Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia

We report two rare genetic aberrations in a schizophrenia patient that may act together to confer disease susceptibility. A previously unreported balanced t(9;17)(q33.2;q25.3) translocation was observed in two schizophrenia‐affected members of a small family with diverse psychiatric disorders. The proband also carried a 1.5 Mbp microduplication at 16p13.1 that could not be investigated in other family members. The duplication has been reported to predispose to schizophrenia, autism and mental retardation, with incomplete penetrance and variable expressivity. The t(9;17) (q33.2;q25.3) translocation breakpoint occurs within the open reading frames of KIAA1618 on 17q25.3, and TTLL11 (tyrosine tubulin ligase like 11) on 9q33.2, causing no change in the expression level of KIAA1618 but leading to loss of expression of one TTLL11 allele. TTLL11 belongs to a family of enzymes catalyzing polyglutamylation, an unusual neuron‐specific post‐translational modification of microtubule proteins, which modulates microtubule development and dynamics. The 16p13.1 duplication resulted in increased expression of NDE1, encoding a DISC1 protein partner mediating DISC1 functions in microtubule dynamics. We hypothesize that concomitant TTLL11‐NDE1 deregulation may increase mutation load, among others, also on the DISC1 pathway, which could contribute to disease pathogenesis through multiple effects on neuronal development, synaptic plasticity, and neurotransmission. Our data illustrate the difficulties in interpreting the contribution of multiple potentially pathogenic changes likely to emerge in future next‐generation sequencing studies, where access to extended families will be increasingly important. © 2011 Wiley‐Liss, Inc.     

Homozygous inv(11)(q21q23) and MLL gene rearrangement in two patients with myeloid neoplasms

Rearrangements of the MLL gene located at chromosome 11q23 are common chromosomal abnormalities associated with acute leukemias. In vast majority of cases with MLL gene rearrangements, only one chromosome 11 or a single MLL allele got involved. We report two very unusual cases of myeloid neoplasms with homozygous inv(11)(q21q23) and biallelic MLL rearrangement. Both patients, a 12-year old boy and a 29-year old woman, presented initially with T lymphoblastic leukemia/lymphoma (T-ALL), achieved complete remission with intensive chemotherapy, then recurred as acute myeloid leukemia in one patient and therapy-related myelodysplastic syndromes in the other patient, 24 and 15 months after initial T-ALL diagnosis, respectively. In both cases, biallelic MLL gene rearrangements were confirmed by fluorescence in situ hybridization. Mastermind like 2 gene was identified as MLL partner gene in one case. To our knowledge, homozygous inv(11)(q21q23) with two MLL genes rearrangement are extremely rare; it is likely a result of acquired uniparental disomy.     

Translocation (1;22)(p36;q11.2) with concurrent del(22)(q11.2) resulted in homozygous deletion of <Emphasis Type="Italic">SNF5/INI1</Emphasis> in a newly established cell line derived from extrarenal rhabdoid tumor

Malignant rhabdoid tumor (MRT) is a highly malignant pediatric cancer, which arises in various sites such as the kidney, brain, and soft tissues. Cytogenetic studies have revealed alterations of 22q11 in MRT. Recently, deletions and mutations of the SNF5/INI1 locus in 22q11.2 have been reported in MRT, suggesting that SNF5/INI1 is a tumor suppressor gene for MRT. Here we report our molecular cytogenetic study for a newly established cell line from extrarenal MRT with t(1;22)(p36;q11.2). Consequently, the reciprocal translocation was associated with the interstitial deletion of a small segment including SNF5/INI1, and another, chromosome 22, showed terminal deletion, the breakpoint of which was located 70–80 kb centromeric to SNF5/INI1, resulting in homozygous deletion of SNF5/INI1 in this cell line.