染色体臂间倒位对生育影响的研究

作者对本室的1660例外周血染色体检查中,检出染色体臂间倒位10例,其中inv(2)1例、inv(4)1例、inv(9)7例、inv(17)1例,均有异常生育史,提示inv(9)有生育遗效应。     

9号染色体臂间倒位与生育异常的相关性研究

目的分析兰州地区人群中9号染色体臂间倒位inv(9)与生育异常的关系,探讨其对生育的影响,为当地临床优生与遗传咨询提供依据。方法 2017年1月—2018年6月间来我院进行外周血淋巴细胞染色体核型分析的患者,通过病史采集按照病因分为生育异常组和非生育病因的对照组,对比两组的inv(9)检出率。结果共有6590例患者进行了染色体核型分析,检出inv(9)患者45例,检出率为0.68%,其中生育异常组4271例,检出inv(9)患者37例,检出率为0.87%,对照组2319例,检出inv(9)患者8例,检出率为0.34%。结论生育异常组inv(9)检出率显著高于对照组,inv(9)与生育异常组存在一定的相关性。     

66例9号染色体臂间倒位临床分析

目的探讨9号染色体臂间倒位的临床意义,分析inv(9)与生育障碍的关系。方法患者抽取外周血进行淋巴细胞培养,按常规方法制备染色体,G显带行核型分析。结果 6962例外周血中检出inv(9)66例,检出率0.95%,将6962例受检者分为正常生育组和生育障碍组,比较其inv(9)检出率,差异无显著性,并就各组资料行临床分析。结论 inv(9)对生育无确切不良影响,无确切病理学意义。     

66例羊水染色体倒位胎儿的遗传咨询及预后分析

目的分析不同种类羊水染色体倒位(inversion,inv)胎儿的产前诊断指征及生育结局,为遗传咨询提供更准确的依据。方法回顾性分析2016年1月～2017年12月在北京妇产医院行羊水穿刺核型分析的染色体倒位胎儿,并选取胎儿父母在遗传咨询时自愿行外周血染色体核型分析的病例。分析倒位胎儿母亲产前诊断指征及倒位携带者夫妇生育史,电话随访倒位胎儿生育结局。结果 66例染色体倒位胎儿中,包括inv(9)46例,inv(Y)7例,inv(3)/inv(7)/inv(10)各2例,inv(2)/inv(4)/inv(6)/inv(8)/inv(12)/inv(17)/inv(X)各1例。父母染色体核型溯源分析发现64例胎儿倒位核型为父母之一遗传而来,仅inv(4)/inv(6)2例为新发突变。66例倒位胎儿母亲产前诊断指征中高龄44例,唐氏筛查或NIPT高11例,不良孕产史5例,不良孕产史合并高龄2例,胎儿超声异常2例,双方之一为携带者2例。随访66例倒位胎儿生育结局,生长发育均无异常。结论胎儿羊水染色体倒位如为父母之一遗传而来,且超声正常,出生后通常表型正常。夫妻双方之一为inv(9)携带者,通常不会导致孕妇自然流产或胚胎停育等不良孕产史。     

69例染色体倒位的产前咨询及临床分析

目的探讨染色体倒位的遗传学效应,分析其与疾病的关糸,并给予产前咨询指导.方法对珠海地区共4032例因各种原因来我院就诊的患者进行染色体分析.结果共检出染色体倒位69例,其中inv(3)2例,inv(4)3例,inv(10)1例,inv(12)2例,inv(Y)7例,及inv(9)54例.结论染色体倒位是导致流产、早产、畸形儿的原因之一,倒位携带者与生育三体儿的风险及与某些疾病关系密切,值得探讨.     

9号染色体臂间倒位与生殖异常之探讨

目的探讨9号染色体臂间倒位inv(9)携带者与不良生育史之间的关系.方法采用外周淋巴细胞染色体培养技术对患者进行分析核型.结果从46名均有流产、死胎、畸胎等不良生育史患者核型分析中,发现染色体核型异常11例,其中9号染色体臂间倒位5例.结论5例全部都有临床效应,不可忽视9号染色体臂间倒位与生育问题有关的可能性.     

羊水中9号染色体臂间倒位的临床效应分析

目的 研究9号染色体臂间倒位是否具有临床遗传效应.方法 采用胰酶-吉姆萨-G显带法对高危孕妇羊水细胞进行染色体核型分析,结果电话随访.结果 11 058位孕妇羊水细胞中检出inv(9)149例,发生率为1.35％.电话随访到其中98位孕妇,其中54例有流产婚育史的孕妇中有8例发生自然流产,自然流产率为14.81％.在98例孕妇中,除4例孕妇有自然流产或死胎史、2例孕妇主诉有7～8个月胎儿发育不良引产史、1例主诉其配偶携带inv(9)且性功能减退、1例主诉胎儿分娩后左手较右手偏小外,其余孕妇及配偶均未述有任何先天异常或其他重大疾病.能咨询到的其他已分娩的inv(9)婴幼儿也未发现其他先天异常或其他严重疾病.对10 909位非孕inv(9)胎儿孕妇和149例孕inv(9)胎儿孕妇的流产率进行相关性卡方检验,差异无统计学意义(γ2 =0.047,P＞0.05).结论 孕inv(9)胎儿孕妇的流产率完全接近非孕inv(9)胎儿孕妇的流产率,孕inv(9)胎儿孕妇的自然流产率等同于正常人群的自然流产率,inv(9)为属于正常的多态变异,不具有临床遗传效应.     

9号染色体臂间倒位与流产关系的分析

目的了解9号染色体臂间倒位与流产的关系.方法常规取外周血淋巴细胞培养制备染色体G显带标本,按人类细胞遗传学国际命名体制(ISCN)进行核型分析.结果在受检的3386人中,检出inv(9)39例,发生率1.15%;inv(9)发生在(p11q12)及(p11q13)的分别有17和10例,各占inv(9)的43.59%和25.64%.结论在排除了免疫、内分泌等因素造成的流产后,对于不好发点上的inv(9),如本文的(p12q13)、(p13q13)和(p13q12),应注意其与不孕不育、流产的直接关系.     

胎儿9号染色体臂间倒位与产前诊断指征的关系

目的探讨孕妇高龄与唐氏综合征血清学筛查高危与胎儿9号染色体臂间倒位(inv(9))的关系。方法回顾性分析2004年10月至2009年8月间在我院因各种原因行羊膜腔穿刺或脐带血穿刺产前诊断的inv(9)胎儿的产前诊断指征。结果唐氏筛查高危的孕妇胎儿inv(9)检出率为0.91%,高于普通人群inv(9)染色体异常检出率,高龄孕妇胎儿inv(9)染色体异常检出率0.71%,低于普通人群inv(9)染色体异常检出率,但2组孕妇的胎儿inv(9)染色体异常检出率与普通人群inv(9)染色体异常检出率差异无显著性。结论唐氏综合征筛查高危,孕妇高龄均不是胎儿染色体inv(9)的高危因素。     

9号染色体臂间倒位与不孕不育相关性的探讨

目的分析9号染色体臂间倒位与不良孕产史、不孕及不育症的关系,探讨其对生育的影响,为临床优生与遗传咨询提供依据。方法对2006年至2016年来本医院进行就诊的8836例患者进行外周血染色体核型分析。结果 8836例被检者中9号染色体臂间倒位179例,检出率为1.87%,其中不孕症及不育症患者的检出率分别为2.27%和2.11%,均显著高于正常人群。179例患者中存在4种不同的臂间倒位类型,其中inv(9)(p12q13)的比例最高,占45%,其次为inv(9)(p11q13)占21%,另外两种异位类型inv(9)(p11q12)和inv(9)(p13q13)分别占18%及16%。结论 9号染色体臂间倒位与不孕不育存在一定的关联性。     

Population studies of inv(9) chromosomes in 4,300 japanese: Incidence,sex difference and clinical significance

Summary Population incidence of a chromosome 9 with an inversion of qh, inv(9), was surveyed using C-banding in a total of 4,367 Japanese which consisted of five patient groups and a normal control groups. The inv(9) incidence was 1.65% in the normal control group (n=1,513) and 1.52% in the Down syndrome patient group (n=1,246). The incidence of female carriers was 1.7 times higher than that of male carriers in the above two groups. The sex difference was significant (p<0.05). Moreover, the incidence in the 47,XXY male group (n=277) was slightly higher than female carrier incidences. The excess of carriers about 2 times was observed in the habitual abortion couple group (n=694) and the spontaneous abortus group (n=181), both having normal karyotypes. The present data probably indicate the existence of a genetic effect of inv(9) on human reproductive performance, while they could not explain the sex difference found in inv(9) carriers. Our speculation for the sex difference has been presented.     

Acquired inv(9): what is its significance?

Pericentric inversion of the heterochromatic region of chromosome 9 [inv(9)] is a common heteromorphism in the general population. It is presumed familial as there are no reports of de novo inv(9) chromosomes in constitutional karyotypes. We report 2 cases of acquired inv(9) chromosomes; 1 patient with acute myeloid leukemia, 46,XY,inv(9)(p11q13)[11]/46,XY[9], and a second with severe anemia, 46,XX,inv(9)(p11q13)[14]/46,XX[6]. The acquired nature of the inv(9) was confirmed by constitutional karyotyping and/or molecular analysis. The inv(9) in these patients may be a de novo inversion that cytogenetically mimics the constitutional inv(9) heteromorphism. Alternatively, it may be the result of neocentromere activation in 9q due to epigenetic events associated with the disease in these patients that results in a metacentric chromosome similarly mimicking the constitutional inv(9). One previous report of an acquired inv(9) was in a patient with essential thrombocythemia. The differences in clinical presentation may represent different underlying mechanisms generating the inv(9). The significance of an acquired inv(9) is unknown and will require reporting of additional cases.     

9号染色体倒位与不孕不育的关系

目的初步探讨9号染色体倒位与不孕不育的关系。方法以562例不孕不育患者作为不孕不育组、4789例非不孕不育原因进行遗传咨询的患者作为对照组,进行外周血淋巴细胞培养染色体核型分析,采用G显带法。结果与对照组比较,不孕不育组inv（9）检出率比对照组高（4．45％vs2．32％,P=0．002）。不孕不育组男性的inv（9）检出率高于对照组男性、对照组女性,有极显著统计学意义。而且,不孕不育组男性的inv（9）检出率比该组女性高104％。结论不孕不育人群的inv（9）携带者率比其他人群高,而且不育男性的inv（9）携带者比率比不孕女性高。     

9号染色体臂间倒位的遗传效应分析

目的探讨9号染色体臂间倒位的常见区带及其所产生的遗传效应.方法应用统计学方法对国内中文杂志从1994年以来报道的342例9号染色体臂间倒位进行分析.结果117例(34.2%)为次缢痕区(p11q12)的倒位,96例(28.1%)倒位区带为p11q13,由此可见,inv(9)主要发生于次缢痕区,而且大部分病例都有不同的临床病理表现.结论从目前的研究资料分析,许多研究者倾向于inv(9)(qh)并非仅是一种多态性,它可能在一定的诱因存在下会对减数分裂时同源染色体的分离产生一定的影响.     

Heterochromatic variants and their association with neoplasias: III. Multiple myeloma

The incidence of heterochromatic variants was assessed in 26 patients with multiple myeloma (MM) and 55 control individuals. An enhanced frequency of heteromorphism was present in 92% of the MM population compared with 44% of the control group (p less than 0.001). Significant differences with regard to controls were observed in chromosome pairs #1, #9, and #16 due to 1qh-, inv(1),inv(9) and 16qh- variants. We suggest that MM would present an intermediate heterochromatic behavior between hematologic diseases and solid tumors.     

Constitutional pericentric inversion of chromosome 9 and acute leukemia

In view of the recent reports demonstrating delayed engraftment after autologous and allogeneic transplantation from donors with constitutional pericentric inversion of chromosome 9, [inv(9)], we conducted a retrospective study on six patients with acute leukemia and inv(9) to investigate if there is an impaired engraftment potential of the inv(9) hematopoietic stem cells. All but one of our patients had poor outcome. The hematopoietic recovery after induction chemotherapy was not prolonged. It is possible that the hematopoietic defects of inv(9) become more apparent after repeated courses of chemotherapy. Alternatively, the number of patients in our series may have been too small to detect a partial hematopoietic defect in patients with constitutional inv(9). Larger studies are required to confirm our findings.     

Cytogenetic and dermatoglyphic studies on severely handicapped patients in an institution

Cytogenetic and dermatoglyphic studies were performed on a group of 197 institutionalized patients with severe mental and physical handicaps in order to evaluate the contribution of chromosomal aberrations on the etiology of the condition, and to determine whether any association exists between the dermatoglyphics and the severe handicaps. There were 4 patients with trisomy 21 and 2 patients with a de novo balanced reciprocal translocation. In addition, 9 patients were found to have a pericentric inversion of chromosome 9 (inv (9) (p11q13)). Other chromosome variations identified included inv (1) (p11q11) (one case), elongation of 1 qh (one case), and telocentric chromosome 13 (two cases). Dermatoglyphics from the patients excluding cases with Down syndrome were compared with those from 500 normal controls. Significant differences were observed in several dermatoglyphic characteristics, including simian crease, fingertip pattern, mean a-b ridge count, thenar/first interdigital pattern, hypothenar pattern, and hallucal pattern. The present study indicated that de novo balanced translocation as well as chromosome duplication or deficiency is causally related to the severe combined handicaps. This study also showed that the incidence of inv (9) (p11q13) in the patients was 4.2 times higher than that in the general Japanese population. If a real association exists between the inv (9) (p11q13) and severe handicaps, the increase of inv (9) (p11q13) in the patients may be explained by the concept of a risk factor. Moreover, the dermatoglyphic deviations found in patients may be evidence that pathological factors had been operating during early embryonic life in some of them.