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Chromosomal basis of sterility and reproduction 不育和繁殖的染色体基础
Pub Date : 2003-09-01 DOI: 10.1016/S0003-3995(03)00043-1
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引用次数: 0
Prenatal and preimplantation cytogenetics 产前和着床前细胞遗传学
Pub Date : 2003-09-01 DOI: 10.1016/S0003-3995(03)00050-9
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引用次数: 0
Interstitial “de novo” tandem duplication of 7(q31.1-q35): first reported case 间隙性“从头”串联重复7(q31.1-q35):首次报道病例
Pub Date : 2003-01-01 DOI: 10.1016/S0003-3995(03)00007-8
L. Zelante, A.I. Croce, A. Grifa, A. Notarangelo, S. Calvano

A patient carrying a de novo 7q31-35 duplication is presented. The tandem duplication was confirmed by FISH analysis. The case seems to be the first in the literature and, in spite of the large size of the duplicated region, he shows mild facial dysmorphism and a moderate mental retardation. The clinical findings of the dup7q published cases are compared in order to define a possible common phenotype.

本文报道一名携带7q31-35重复基因的患者。FISH分析证实了串联重复。该病例似乎是文献中的首例,尽管复制区域很大,但他表现出轻度面部畸形和中度智力迟钝。临床发现的dup7q发表的病例进行比较,以确定一个可能的共同表型。
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引用次数: 6
Study of placenta of children born with congenital malformations 先天性畸形患儿胎盘的研究
Pub Date : 2003-01-01 DOI: 10.1016/S0003-3995(03)00009-1
Claude Stoll, Yves Alembik, Béatrice Dott, Marie-Paule Roth

The malformations in this study were observed in a series of 279,642 consecutive births of known outcome registered in our Registry of congenital anomalies. For each case, more than 50 factors included in the registration forms were studied. One of the factors studied was the placenta. For each malformed child, a control was chosen. Cases with maternal known factors impairing placenta function, i.e. vasculopathy and diabetes, were excluded. In each category of malformations studied, the malformed children were divided into isolated and non-isolated (multiple malformed) cases. The weight of placenta of isolated cases was not lower than the weight of placenta of the controls. In contrast, the weight of placenta of the cases with non-isolated malformations was lower than the weight of placenta of the controls and of the isolated cases, for all categories of malformations but gastroschisis and omphalocele. The mean weights at birth of the cases with multiple malformations were also lower than those of the controls. The human placenta discounts a principal functional part, the maternal blood in the intervillous space. Congenital malformations may interact with this function.

本研究中的畸形是在我们先天性异常登记处登记的279,642例已知结局的连续出生中观察到的。对于每个案例,我们研究了登记表格中包含的50多个因素。研究的因素之一是胎盘。对于每个畸形儿童,选择一个对照。已知母体因素影响胎盘功能的病例,如血管病变和糖尿病被排除在外。在研究的每一类畸形中,将畸形儿童分为孤立型和非孤立型(多发畸形)。孤立病例胎盘重量不低于对照组胎盘重量。除腹裂和脐膨出外,非孤立性畸形患者的胎盘重量均低于对照组和孤立性畸形患者。多发性畸形患儿出生时的平均体重也低于对照组。人的胎盘是一个主要的功能部分,在绒毛间空间的母体血液。先天性畸形可能与这一功能相互作用。
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引用次数: 9
A patient with hydranencephaly and PEHO-like dysmorphic features 一例无脑积水伴peho样畸形的患者
Pub Date : 2003-01-01 DOI: 10.1016/S0003-3995(03)00003-0
Cyril Goizet , Caroline Espil-Taris , Marie Husson , Jean-François Chateil , Jean-Michel Pedespan , Didier Lacombe

Progressive encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy (PEHO syndrome) is a rare recessive autosomal neurodegenerative condition essentially described in Finland. The term PEHO-like syndrome has been proposed for patients who share clinical features of PEHO syndrome but lack the cerebellar atrophy, one of its major diagnostic criteria. We describe a patient presenting with hypoxic-ischaemic encephalopathy and PEHO-like syndrome features.

进行性脑病伴水肿、低心律失常和视神经萎缩(PEHO综合征)是一种罕见的隐性常染色体神经退行性疾病,主要发生在芬兰。PEHO样综合征一词已被提出用于具有PEHO综合征临床特征但缺乏小脑萎缩的患者,小脑萎缩是其主要诊断标准之一。我们描述了一位表现为缺氧缺血性脑病和peho样综合征的患者。
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引用次数: 8
Disease associated balanced chromosome rearrangements (DBCR): report of two new cases 疾病相关的平衡染色体重排(DBCR):报告两例新病例
Pub Date : 2003-01-01 DOI: 10.1016/S0003-3995(03)00005-4
V.S. Tonk , H.E. Wyandt , X. Huang , N. Patel , D.L. Morgan , M. Kukolich , L.H. Lockhart , Gopalrao V.N. Velagaleti

Disease associated balanced chromosome rearrangements (DBCR) causing truncation, deletion, inactivation or over-expression of specific genes are instrumental in identifying and cloning several disease genes and are estimated to be much more common than anticipated. In one survey, the minimal frequency of combined balanced de novo reciprocal translocations and inversions causing abnormal phenotype is estimated to be 0.17%, a sixfold increase compared to the general population suggesting a causative linkage between the abnormality and the observed phenotypic traits. Here, we report two new cases of apparently balanced de novo translocations resulting in developmental delay and dysmorphic features.

疾病相关的平衡染色体重排(DBCR)引起特定基因的截断、缺失、失活或过度表达,有助于识别和克隆几种疾病基因,估计比预期的要常见得多。在一项调查中,联合平衡从头易位和倒位导致异常表型的最小频率估计为0.17%,与一般人群相比增加了六倍,这表明异常与观察到的表型性状之间存在因果联系。在这里,我们报告两例明显平衡的新生易位导致发育迟缓和畸形特征。
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引用次数: 7
Pure partial trisomy 6p due to a familial insertion (16;6)(p12;p21.2p23) 家族性插入导致的纯6p部分三体(16;6)(p12;p21.2p23)
Pub Date : 2003-01-01 DOI: 10.1016/S0003-3995(03)00004-2
María G. Domínguez, Luis E. Wong-Ley, Horacio Rivera, Ana I. Vásquez, Alma L. Ramos, Rocío Sánchez-Urbina, J.A. Morales, Luis E. Figuera

There have only been eight patients with 6p pure trisomy involving different segments: four cases resulted from a translocation or insertion and four were due to an intrachromosomal duplication. We report here the first postnatally ascertained patient with a pure 6p partial trisomy due to an interchromosomal insertion (16;6)(p12;p21.2p23)mat. This rearrangement was confirmed by fluorescent in situ hybridization (FISH) with whole chromosome 6 and 16 painting probes. The clinical findings in the present patient were similar to those observed in previous cases, including craniofacial dysmorphism, minor anomalies, and lack of severe anatomical defects; yet, the unspecificity of many of these features prevented us from delineating the 6p pure trisomy syndrome.

只有8例患者有涉及不同片段的6p纯三体:4例是由于易位或插入,4例是由于染色体内复制。我们报告这里产后第一确定纯6 p部分患者三染色体细胞由于染色体间插入(16;6)(p12; p21.2p23)垫。用整个6号染色体和16号染色探针的荧光原位杂交(FISH)证实了这种重排。本例患者的临床表现与以往病例相似,包括颅面畸形,轻微异常,没有严重的解剖缺陷;然而,许多这些特征的不特异性阻止了我们描绘6p纯三体综合征。
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引用次数: 15
Skewed X-chromosome inactivation pattern in SRY positive XX maleness: a case report and review of literature SRY阳性XX男性x染色体失活模式偏斜1例报告及文献复习
Pub Date : 2003-01-01 DOI: 10.1016/S0003-3995(03)00011-X
Nouha Bouayed Abdelmoula , Marie-France Portnoi , Leila Keskes , Dominique Recan , Ali Bahloul , Tahia Boudawara , Ali Saad , Tarek Rebai

XX maleness is the most common condition in which testes develop in the absence of a cytogenetically detectable Y chromosome. Using fluorescence in situ hybridization (FISH) or PCR, it was possible to detect the transfer of Yp fragments including SRY gene to the terminal part of X chromosome in the majority of XX males. We report a 32-year-old-male in whom a seminal analysis showed azoospermia, an X chromatin analysis showed 44% of Barr body positive nuclei and a chromosomal analysis revealed a 46,XX karyotype. Physical examination showed a normal sexual development and bilateral small testes. Hormonal studies revealed hypergonadotropic hypogonadism. Testis histological examination showed a profile of Sertoli Only Cell Syndrome. FISH study ruled out the presence of a Y-bearing cell line, and confirmed translocation of SRY to Xp terminal part. In order to confirm that the complete masculinized phenotype was related to a preferential inactivation of the no rearranged X chromosome, X-chromosome inactivation patterns (XCIP) were studied by analysis of methylation status of the androgen receptor gene. Highly skewed XCIP was observed by greater than 90% preferential inactivation involving one of the two X chromosomes, suggesting that the SRY-bearing X chromosome was the preferentially active X allowing for sufficient SRY expression for complete masculinization.

XX男性是在没有细胞遗传学可检测到的Y染色体的情况下睾丸发育的最常见情况。利用荧光原位杂交(FISH)或PCR技术,可以检测到在大多数XX雄性中含有SRY基因的Yp片段转移到X染色体末端。我们报告一位32岁男性患者,其精液分析显示无精子症,X染色质分析显示44%的Barr体阳性核,染色体分析显示46xx核型。体格检查显示性发育正常,双侧睾丸小。激素研究显示促性腺激素亢进性性腺功能减退。睾丸组织学检查显示仅支持细胞综合征。FISH研究排除了携带y的细胞系的存在,并证实了SRY向Xp终端部分的易位。为了证实完全雄性化表型与未重排的X染色体优先失活有关,通过分析雄激素受体基因的甲基化状态,研究了X染色体失活模式(XCIP)。高度偏斜的XCIP在两条X染色体中的一条中被观察到超过90%的优先失活,这表明携带SRY的X染色体是优先活跃的X,允许足够的SRY表达以实现完全的雄性化。
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引用次数: 42
Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families Holt-Oram综合征:两个不相关家族中TBX5基因的新突变
Pub Date : 2003-01-01 DOI: 10.1016/S0003-3995(03)00006-6
Claudia Gruenauer-Kloevekorn, Ursula G. Froster

Holt-Oram syndrome (HOS) is a specific developmental defect involving upper limb malformations and cardiac defects. Mutations in the TBX5 gene, located on chromosome 12q24.1, were demonstrated as the underlying molecular defect in several families with this disorder. We report on two unrelated families with HOS. Affected members of both families have the same truncation mutation in exon 5 of the TBX5 gene (Y136X). This mutation has not been reported before in HOS. The spectrum of defects is similar in both families, displaying an ASD, hypoplastic deltoid muscles and hypoplastic or absent thumbs extending to radial defects in one case. So far, only a single genotype-phenotype analysis in HOS has been done which is not sufficient to explain the high inter- and intrafamilial variability of expression. Our observation further supports that the position of the mutation in the TBX5 gene is related to the phenotype expression of HOS.

Holt-Oram综合征(HOS)是一种特殊的发育缺陷,涉及上肢畸形和心脏缺陷。位于12q24.1号染色体上的TBX5基因突变被证明是该疾病几个家族的潜在分子缺陷。我们报导两个没有血缘关系的居屋家庭。两个家族的受影响成员在TBX5基因外显子5上具有相同的截断突变(Y136X)。这种突变在HOS中从未报道过。两个家庭的缺陷谱相似,表现为ASD,三角肌发育不全,一个病例的拇指发育不全或缺失延伸到桡骨缺陷。到目前为止,仅对HOS进行了单一基因型-表型分析,这不足以解释家族间和家族内表达的高变异性。我们的观察结果进一步支持了TBX5基因突变的位置与HOS的表型表达有关。
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引用次数: 27
Mucopolysaccharidosis I: a comparative study of haplotypes Eco47III–NspI sites frequencies in patients and healthy subjects of Mexican population 粘多糖病I型:墨西哥人群患者与健康人群Eco47III-NspI单倍型位点频率的比较研究
Pub Date : 2003-01-01 DOI: 10.1016/S0003-3995(03)00010-8
M.P. Gallegos-Arreola , L. Arnaud-López , L.E. Figuera , T.S.Beltrán Jaramillo , H. Rangel-Villalobos , Sunji Thomatsu , G.M. Zúñiga-González

Background. – Mucopolysaccharidosis I (MPS-I) is an autosomal recessive disorder, which is caused by mutations in the IDUA gene. It induces the deficiency of glycosidase α-L-duronidase. The enzyme that is required for the degradation of heparan and dermatan sulfate. This disorder expresses a wide range of clinical symptoms (severe mental retardation, skeletal deformations, hepatosplenomegaly, corneal clouding and mild visceral organ involvement). In the present paper, we report the frequencies of haplotypes of the Eco47III–NspI sites, in the IDUA gene, in Mexican healthy and in MPS-I individuals.

Methods. –Eco47III and NspI intragenic polymorphisms in IDUA gene were studied in 262 (524 chromosomes) Mexican healthy subjects and in 53 (106 chromosomes) MPS-I patients.

Results. – The genotypes for IDUA Eco47III and NspI sites in Mexicans were in agreement with Hardy–Weinberg expectations. Allele frequency distributions for individual sites differed (P < 0.05) in both groups. Haplotype Eco47III–NspI frequencies of Mexican MPS-I patients also differed from those of the normal Mexican population. The data provide evidence of linkage disequilibrium, since the MPS-I group constitutes a subset of the Mexican control population. The disequilibrium in Mexican MPS-I patients was defined by an increase in the haplotype A1B2, and deficiency in A2B1, with respect to normal population (P < 0.05).

Conclusions. – Our results support that these polymorphisms can be associated to mutations in IDUA gene, which leads to MPS-I in Mexican patients. On the other hand, these polymorphisms can be used to identify heterozygosity when they are informative.

背景。粘多糖病I (MPS-I)是一种常染色体隐性遗传病,由IDUA基因突变引起。诱导糖苷酶α- l -榴莲苷酶缺乏。肝素酶一种降解肝素和硫酸皮素所必需的酶这种疾病表现出广泛的临床症状(严重的智力迟钝、骨骼变形、肝脾肿大、角膜混浊和轻微的内脏器官受累)。在本文中,我们报告了墨西哥健康和MPS-I个体中IDUA基因中Eco47III-NspI位点的单倍型频率。对262名墨西哥健康人(524条染色体)和53名MPS-I患者(106条染色体)的IDUA基因eco47iii和NspI基因内多态性进行了研究。墨西哥人IDUA Eco47III和NspI位点的基因型与Hardy-Weinberg预期一致。个体位点的等位基因频率分布存在差异(P <0.05)。墨西哥MPS-I患者的单倍型Eco47III-NspI频率也不同于墨西哥正常人群。这些数据提供了连锁不平衡的证据,因为MPS-I组构成了墨西哥对照人群的一个子集。与正常人群相比,墨西哥MPS-I患者的不平衡表现为A1B2单倍型增加,A2B1缺乏(P <0.05) .Conclusions。我们的结果支持这些多态性可能与IDUA基因突变有关,这导致了墨西哥患者的MPS-I。另一方面,当这些多态性具有信息性时,可用于鉴定杂合性。
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引用次数: 2
期刊
Annales de Génétique
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