人类同源14q 14q Robertson易位1例

作者报告1例45，XX，t(14；14)(14qter14qll：：14q12—14qter)，并讨论了14q 14q Robertson易位在人群中十分罕见的原因。指出Robertson易位的发生是非随机的，首先，着丝粒染色质区和随体柄是否容易断裂与Robertson易位有关。第14号染色体的异染色质区与第13、15号染色体不同，由于着丝粒区的重复序列有种不加选择地配对现象，逆向配对片段的U型交换导致Robertson易位．这可能是人类中两个14号染色体很难出现融合的原因。其次．随体联合把着丝粒聚集在一起，导致了Robertson易位的发生．作者统计了不同染色体间随体联合频率，发现随体联合频率高，Robertson易位频率随之增高，反之亦然，其中14和15号染色体间随体联合最低，这可能是t(14q 14q)罕见的原因。     

部分14q三体性

在自然流产儿中发现有完全的14三体,而活着出生的嵌合型婴儿是非常罕见的。但是曾报导有少数部分14三体的病例。有好几例关于第14号染色体的短臂、着丝粒区和长臂某部分三体的报导(71年至77年以来有12例)。长臂最远端部分三体,也有过两例报导(1973和1977)。病例报告:SR生于1977年7月24日,双亲健康而无亲缘关系。出生时母亲41岁,父亲42岁。家族史中有两个流产儿和一个死婴。SR生后4周,体重4,080g、身长56厘     

14q末端三体综合征

14末端三体比14基部三体更少见,由14末端三体引起的综合征直到最近一直没有很好的描述过。本文报道一例病人具有14q24(?)14qter三体。病人为一男孩,双亲身体健康,其母怀孕时因怀疑胎盘机能不全,于妊娠38周后,剖腹产分娩。体重1,670克,身长39厘米,发现有多处畸形,头形不正常,囟门大,骨缝显著,眼距宽,眼裂略向上倾斜,左眼脉络膜和乳头裂开,鼻显著,狭腭,肥大龈和小颌,耳小低位,胸廓窄,骨盆畸形,两侧     

A specific translocation,t(12;14)(q14–15; q23–24), characterizes a subgroup of uterine leiomyomas

We have cytogenetically investigated short-term cultures initiated from 34 uterine leiomyomas, all of which were histologically completely benign. Clonal chromosome abnormalities were detected in five cases, a normal female complement in 22, whereas, in the remaining seven tumors no karyotype could be established. Apparently identical reciprocal translocations, t(12;14)(q14–15;q23–24), were found as the sole abnormality in four tumors. The fifth abnormal case contained a t(2;14)(p11;p11). We conclude that chromosome aberrations may be found in myomas of the uterus, and that t(12;14)(q14–15;q23–24) characterizes a subset of these tumors.     

t(13q;14q)携带者的骨髓增生异常

迄今为止,有关骨髓增生异常(MPD)的病例报导只有廖廖数例。这种表面上的罕见导致产生本病是偶然发生的观点。本文报导一例D/D易位携带者发展成MPD的病例。患者为一位70岁高加索女性。因腰背痛以及两周来呼吸困难而住院。骨髓     

一例46，XY，t（11；14）（q14；q23）核型

一例４６，ＸＹ，ｔ（１１；１４）（ｑ１４；ｑ２３）核型李莉莉，李井芝，李玉臣患者男，２４岁。身体健康，结婚４年。自述其妻曾怀孕２次，均为男婴。第１胎过期１个月分娩，生后发现其不会吸吮，第４天抽搐死亡。夫妇双方表型正常，智力正常，非近亲结婚。细胞遗传学...     

一个染色体14q微缺失的遗传学分析

目的分析1例自闭症、智力低下和癫痫患儿的遗传学病因。方法应用常规G显带染色体核型分析、单核昔酸多态性微阵列(single nucleotide polymorphism array,SNP array)技术检测染色体变异,用高通量测序筛选致病变异位点,Sanger测序验证,查阅数据库及文献分析,以明确缺失区及致病变异基因的病理意义。结果患儿及其父母外周血G显带核型分析结果均未见异常。SNP array检测发现患儿染色体14 qll.2区存在460 kb的缺失,高通量及Sanger测序显示患儿携带NALCN基因新发变异,患儿及其母亲COL4A5基因发生半合子变异。结论染色体14qll.2微缺失与NALCN变异可能与患儿自闭症、智力低下及癫痫等表型相关。     

染色体异常rob(13q;14q)一家系细胞遗传学分析

罗伯逊易位（Robertsonian translation,rob）是指发生在近端着丝粒染色体之间的一种特殊的易位方式,主要指人类的13、14、15、21、22号5对近端着丝粒染色体间由长臂相连的衍生染色体,是人类中最常见的染色体重排,在人群中的发生率大约是1／1000。罗伯逊易位也是造成人类反复流产的主要原因之一。我室在遗传咨询中发现-rob（13q;14q）家系,主要表现为多次流产,现报道如下。     

t(2;14)(q22;q31)伴流产一例

患者女,25岁,G2P0.患者怀孕2次,均于孕40余天不明原因阴道出血,B超显示胚胎停止发育.孕期无患病、服药及不良因素接触史.夫妇双方非近亲结婚、身体健康.细胞遗传学检查:丈夫核型正常,患者核型为46,XX,t(2;14)(2pter→2q22::14q31→14qter;14pter→14q3l::2q22→2qter)(图1).     

临床表现不同的染色体异常rob(13q;14q)3例报告

病例报告例 1:男 ,3岁 ,其母婚后第一胎足月顺产 1男婴 ,因患先心病而夭折。患者系第二胎足月顺产 ,生时无异常发现 ,至1周岁时发现智力落后于同龄儿童 ,3周岁时仍不会走路 ,只会喊爸、妈两字。查体 :发育一般 ,心肺正常 ,上腭高尖 ,脑部ＣＴ未见异常 ,ＢＡＬＰ <2 0 0ｕ/Ｌ。母亲孕期无服药史。细胞遗传学检查 :患者核型为 45 ,ＸＹ ,ｒｏｂ(13ｑ ;14ｑ)。例 2 :男 ,2 7岁 ,电焊工人。 1993年结婚 ,妻一直未孕 ,1995年于当地医院检查 ,女方正常 ,男方精液检查发现无精子 ,后来我院检查 ,精液离心镜检偶见精子。该患者有 3个兄长 ,均有子女 …     

Gains of 12q13–14 and overexpression of mdm2 are frequent findings in intimal sarcomas of the pulmonary artery

The characterization of clinical, histopathological, immunohistochemical, and genetic features of intimal sarcomas arising in the pulmonary artery is presented in this study. Four resected lungs, one endarterectomy specimen and three biopsies from eight patients (four males and four females; median age 41 years) suffering from intimal sarcomas of the pulmonary artery using conventional stains, immunohistochemistry, and comparative genomic hybridization (CGH) were analyzed. The predominant clinical presentation was dyspnea (all eight patients) and febrile pulmonary disease (six of eight). Signs of embolic lung disease were present in all patients. One patient died postoperatively, six patients died of disease 8-35 months after presentation, and one patient was alive 6 months after surgery. Histopathological examination of the submitted material showed spindle cell, partially myxoid and pleomorphic sarcomas. Metastases were histologically confirmed in three patients (lung, pleura, and skull). Immunohistochemically, vimentin was strongly expressed in all tumors. Focal positivity was observed for alpha smooth muscle actin, CD117, CD68, p53, and bcl2. No reaction could be obtained for endothelial markers. The proliferation index Ki-67 was between 5% and 80%. Six examined tumors were positive for mdm2. In the CGH analysis, gains and amplifications in the 12q13-14 region were found in six of eight tumors (75%). Other, less consistent alterations, were losses on 3p, 3q, 4q, 9p, 11q, 13q, Xp, and Xq, gains on 7p, 17p, and 17q, and amplifications on 4q, 5p, 6p, and 11q. Intimal sarcomas of the pulmonary artery are tumors with an unfavorable prognosis and poorly differentiated morphology. A majority of tumors show a consistent genetic alteration (gains and amplifications in the 12q13-14 region) and overexpression of mdm2, implicating the mdm2/p53 pathway as a possible mechanism in the tumor pathogenesis.     

罕见的t(3;14)(q29;q11)一例

患儿 女,2岁.因说话不清,走路不稳就诊.患儿系第1胎,足月顺产,生后无窒息,出生身长56cm,体重3550 g.8个月会坐,1岁会独站,1岁半学走步.     

14q23断裂点与子宫平滑肌瘤的关系

近来认为良性平滑肌瘤涉及12和/或14号恒定的染色体重排的特征,这种发现有利于我们了解良性和恶性肿瘤增殖扩散的分子基础。本文作者对良性子宫平滑肌瘤的肿瘤细胞行短期人工培养,所制备的染色体显示出dir ins(14;6)(q23;p23;p25)的特殊变化。这一变化支持了14q23断裂点与子宫平滑肌瘤有特殊关系的假说。 1987年9月14日,一名46岁的妇女因手术探查发现巨大的子宫体而行子宫全切除术。当时怀疑子宫瘤由肝转移而来,或与肾肿块及脊髓骨质溶解有关。病人由于背部疼痛,体重明显下降而对其行进一步检查,在     

Assignment of the human poly(A) polymerase (PAP) gene to chromosome 14q32.1–q32.2 and isolation of a polymorphic CA repeat sequence

We report the chromosomal localization of the gene for human poly(A) polymerase (PAP) and the characterization of a newly isolated CA repeat near the PAP locus. By fluorescence in situ hybridization and polymerase chain reaction (PCR)-based analysis with both a human/rodent monochromosomal hybrid cell panel and a radiation hybrid mapping panel, this gene was mapped on the q32.1–q32.2 region of chromosome 14. From a genomic clone containing the human PAP locus, we have isolated a polymorphic dinucleotide (CA) sequence. High heterozygosity (0.81) makes this polymorphism a useful marker in the genetic study of disorders localized at the 14q32 region, such as autosomal recessive congenital microphthalmia (CMIC). Received: February 8, 1999 / Accepted: March 26, 1999     

Is a duplication of 14q32 a new recurrent chromosomal alteration in B-cell non-Hodgkin lymphoma?

Identification of clonal chromosomal abnormalities involving 14q32 and its association with specific histological subtypes of non-Hodgkin lymphoma (NHL) has provided substantial insight to the genetic events leading to the disease. However, in some cases with inferior morphology of tumor cell chromosomes, the additional segment on chromosome 14 remains unidentified by cytogenetic banding techniques alone. To elucidate the origin of the additional chromosomal segment and to correlate the newly determined alterations with histology, metaphases from 15 NHL patients with add(14)(q32) were examined using fluorescence in situ hybridization (FISH) techniques after cytogenetic analysis had been performed. We found the duplication of 14q involving the q32 region in 6 cases with a dup(14) (q32) in 4 cases and a dup(14)(q24q32) in 2 cases. In 8 cases, FISH unveiled known NHL associated translocations; a t(14;18)(q32;q21) in 4 cases, a t(11;14)(q13;q32) in 2 cases, a t(8;14)(q24;q32) and a t(9;14)(p13;q32) in 1 case each. We also noted a t(14;17)(q32;q21) in 1 case. The use of FISH was a valuable asset in determining the origin of the additional material on chromosome 14q32, and helped resolve a group of B-cell NHLs with involvement of a duplicated 14q32 region.     

3例T细胞淋巴癌14号染色体臂间倒位的末端断点在14q52

在毛细血管扩张共济失调(AT)的病人T细胞克隆中,发现14号染色体臂间倒位〔inv(14)〕的末端断裂。并定位在免疫球蛋白重链基因(14q32.3)的外侧。作者报告3例在细胞遗传学表现与ATT细胞克隆相同的14号染色体臂间倒位的T细胞淋巴瘤。此3例皆有相似的免疫表现型。Hecht等(1984)通过T细胞淋巴瘤细胞系SUP-T_1的高分辨染色体带的分析,已将14号染色体臂间倒位的断裂点定在14q11.2和14q32.3。这3例病人经细胞遗传和免疫的研究,也证实了inv(14)(p11.2 q32.3)。     

46, XY,t(5; 11; 10)(q15; q14; p14)复杂易位一例

男,28岁,汉族,因"婚后5年未育"就诊。查体：身高171 cm,体重68 kg,有胡须,喉结明显,外生殖器未见异常,智力及表型无异常。否认家族遗传病史,否认有毒有害物质及放射线接触史。超声检查双侧睾丸偏小,左侧为20.1 mm×15.6 mm×9.9 mm,右侧为18.1 mm×13.9 mm×10.8 mm。精液常...     

软组织肿瘤13q14染色体不稳定性的荧光原位杂交分析

目的探讨软组织肿瘤染色体13q的基因状态及与肿瘤发生和发展的相关性。方法收集40例患者的41个软组织肿瘤,包括多种分化方向的良性肿瘤9例,低度恶性肿瘤9例,恶性肿瘤23例。应用双色荧光原位杂交（FISH）技术检测染色体13q14中分别包含Rb、RFP2、KCNRG和KLF5基因的3个位点RP11-685115、RP11-352N7和RP11-505F3在肿瘤中的改变情况。结果RP11-685115位点杂合性缺失（LOH）8例,扩增1例;RP11-352N7位点LOH4例,扩增1例;RP11-505F3位点LOH3例,扩增3例。3个位点同时出现LOH2例。2例内对照位点RPll-61K9也出现了LOH。1例恶性外周神经鞘瘤出现3个位点的扩增。13q异常在不同来源肿瘤中发生率不同。结论软组织肿瘤存在染色体不稳定性,从而增加染色体杂合性缺失和肿瘤抑制基因失活的几率。13q异常在不同的肿瘤发生模式中起不同的作用。肿瘤抑制基因Rb、RFP2和KCNRG的LOH与软组织肿瘤的发生可能有关。     

45，XX，rob（13q；14q）合并原发性闭经1例报道

患者，女，24岁，汉族，未婚，身高1．67m，体重60kg．面容无明显异常，前后发际无异常、无蹼颈、智力略逊．其它表型无异常．妇检：外阴、乳房无明显异常；子宫发育不良(幼稚子宫)。细胞遗传学检查：外周血常规培养G显带核型分析，核型为：45．XX．-13，-14． rob(13q；14q)；即(13qter→13pll：：14qll→14qter)。