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Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia 急性髓母细胞白血病中与双分钟染色体和MYC扩增相关的4三体
Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.08.004
Aline Receveur , Jeanne Ong , Laurent Merlin , Zahia Azgui , Hélène Merle-Béral , Roland Berger , Florence Nguyen-Khac

A case of de novo acute myeloblastic leukemia (AML) M2, with trisomy 4 and double minute (dmin) chromosomes is reported. Amplification of the MYC gene ascertained by FISH was associated with dmin. A review of the literature of trisomy 4-dmin-associated AML shows that this entity preferentially occurs in elderly women and is not always associated with previously identified exposition to mutagens.

报告1例新发急性髓母细胞白血病(AML) M2,伴4三体和双分钟(dmin)染色体。FISH证实MYC基因扩增与dmin有关。对4-dmin三体相关AML的文献回顾表明,这种实体优先发生在老年女性中,并不总是与先前确定的突变剂暴露有关。
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引用次数: 12
Cryptic translocations involving chromosome 20 in polycythemia vera 真性红细胞增多症中涉及20号染色体的隐性易位
Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.08.003
Maryvonne Busson , Serge Romana , Florence Nguyen Khac , Olivier Bernard , Roland Berger

A systematic cytogenetic study was performed in 49 patients with polycythemia vera (PV) in order to investigate the occurrence of subtelomeric rearrangements of chromosome 20, the most frequently rearranged chromosome in this myeloproliferative disorder. Partial deletion of the long arm of chromosome 20 was observed in two patients and two cryptic translocations, t(1;20)(p36;q13) and t(18;20)(p11;q13) in two others, all previously treated. The localization of the breakpoints of the translocated 20 chromosomes was different in the two translocations, as shown by fluorescence in situ hybridization (FISH) to metaphase chromosomes using BAC clones. Although infrequent (2/49), cryptic translocations of chromosome 20 deserve to be detected as preliminary to identification of molecular defects in PV.

对49例真性红细胞增多症(PV)患者进行了系统的细胞遗传学研究,以调查20号染色体亚端粒重排的发生,20号染色体是这种骨髓增生性疾病中最常见的重排染色体。在两名患者中观察到20号染色体长臂部分缺失,在另外两名患者中观察到t(1;20)(p36;q13)和t(18;20)(p11;q13)两个隐性易位,均曾接受治疗。利用BAC克隆对中期染色体进行荧光原位杂交(FISH),结果表明,易位的20条染色体的断点在两次易位中定位不同。虽然不常见(2/49),但20号染色体的隐性易位值得作为鉴定PV分子缺陷的初步检测。
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引用次数: 10
Isolated congenital anonychia cases with coincident chromosomal fragility 合并染色体易碎性的孤立性先天性匿名症
Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.03.004
İrfan Özyazgan , Işılay Özyazgan , Munis Dündar

Isolated anonychia without any associated phenotypical disturbances is one of the rarest anomalies of congenital nail disorders. Some or all fingers of the hands or feet could be affected. Anonychia can be encountered in dermatologic disorders like pemphigus, lichen planus, epidermolysis bullosa; it can also be seen as a component of some syndromes like Nail-Patella and Cooks syndromes. We present a sister couple in whom all fingernails and toenails were lacking without any additional physical sign. A fragile chromosomal site was also encountered in peripheral chromosome analysis in the long arm of the chromosome 10 in both of the cases.

无任何相关表型障碍的孤立无甲是先天性指甲疾病中最罕见的异常之一。手脚的部分或全部手指都可能受到影响。在皮肤疾病如天疱疮、扁平苔藓、大疱性表皮松解症中可能会遇到无痕;它也可以被视为某些综合征的组成部分,如指甲-髌骨综合征和库克综合征。我们介绍一对姐妹夫妇,他们所有的指甲和脚趾甲都缺失,没有任何额外的身体迹象。在这两种情况下,在10号染色体长臂的外周染色体分析中也遇到了一个脆弱的染色体位点。
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引用次数: 3
Non-lethal Hallermann–Streiff syndrome with bone fracture: report of a case 非致死性Hallermann-Streiff综合征合并骨折1例报告
Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.03.005
Vildan Ertekin , Mukadder Ayşe Selimoğlu , Erol Selimoğlu

The Hallermann–Streiff syndrome is characterized by bird-like face, micropthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature. We present a 35-day-old patient with the classical signs except cutaneous atrophy, additionally he had a healing fracture at the proximal part of the left radius.

Hallermann-Streiff综合征的特征是鸟样脸、小眼、白内障、小颌、鹰嘴鼻、牙列异常、毛少、皮肤萎缩和不成比例的身材矮小。我们报告了一个35天大的病人,除了皮肤萎缩外,他还有一个愈合的左桡骨近端骨折。
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引用次数: 10
A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES) 荧光原位杂交鉴定亚显微不平衡亚端粒易位t(2p;10q):胎儿颈部半透明性增高,标准核型正常,生长发育迟缓,脑形突触(RES)
Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.07.005
J. Lespinasse , H. Testard , F. Nugues , M. Till , M.P. Cordier , M. Althuser , F. Amblard , S. Fert-Ferrer , C. Durand , F. Dalmon , C. Pourcel , P.S. Jouk

Reaching an accurate diagnosis in children with mental retardation associated or not with dysmorphic signs is important to make precise diagnosis of a syndrome and for genetic counseling. A female case with severe growth and development delay, dysmorphic features and feeding disorder is presented. Antenataly, the fetus was observed to have increased nuchal translucency and a slight hypoplastic cerebellum. A standard karyotype was normal. RES and a submicroscopic unbalanced subtelomeric translocation t(2p; 10q) were demonstrated after birth. We show that within the framework of a collaborative approach, a concerted research of submicroscopic subtelomeric rearrangements should be performed in case of mental retardation associated with facial dysmorphic features, and when other etiologies or non-genetic factors (iatrogenic, toxic, infectious, metabolic...) have been ruled out.

对与畸形体征相关或不相关的智力迟钝儿童进行准确诊断,对综合征的准确诊断和遗传咨询都很重要。本文报告1例严重生长发育迟缓、畸形、进食障碍的女性病例。胎儿在产前观察到颈部透明度增加,小脑发育轻微不足。标准核型正常。RES与亚微观不平衡亚端粒易位t(2p;10q)在出生后被证实。我们表明,在协作方法的框架内,应在与面部畸形特征相关的智力迟钝的情况下,以及在排除其他病因或非遗传因素(医源性、毒性、传染性、代谢性……)的情况下,进行亚微观亚端粒重排的协同研究。
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引用次数: 16
Partial trisomy 8q and partial monosomy 18p: a case report 8q部分三体和18p部分单体1例
Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.07.004
S. Puvabanditsin , E. Garrow , F.A. Rabi , R. Titapiwatanakun , K.M. Kuniyoshi

We report clinical observations and cytogenetic studies of an inherited partial trisomy 8q and partial monosomy 18p. A full trisomy 8 syndrome (Warkany syndrome) is a clinically recognized syndrome. Partial trisomy 8q has been reported sporadically in the literature with variable phenotypes. Partial monosomy 18p, deletion of the short arm of chromosome 18, is also a well-recognized syndrome. This is the first report to the best of our knowledge of partial trisomy for distal 8q and partial monosomy for distal 18p occurring together in a patient.

我们报告了遗传性8q部分三体和18p部分单体的临床观察和细胞遗传学研究。全8三体综合征(Warkany综合征)是一种临床公认的综合征。部分8q三体在不同表型的文献中有零星报道。部分单体18p,即18号染色体短臂缺失,也是一种公认的综合征。这是据我们所知的第一个关于远端8q部分三体和远端18p部分单体同时发生在患者身上的报告。
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引用次数: 11
Y chromosome micro-deletions in idiopathic infertility from Northern India 印度北部特发性不孕症的Y染色体微缺失
Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.05.003
Rama Devi Mittal , Gunjana Singh , Aneesh Srivastava , Mandakini Pradhan , Akanchha Kesari , Annu Makker , Balraj Mittal

Azoospermia factor locus (AZF) is assumed to contain the genes responsible for spermatogenesis. Deletions in these genes are thought to be pathologically involved in some cases of male infertility associated with azoospermia or oligozoospermia. An attempt was made to establish the prevalence of micro-deletions on the Y chromosome in 79 infertile North Indians with azoospermia and oligozoospermia. Detail clinical examinations as well as endocrinological parameters were also done. Polymerase chain reaction (PCR) micro-deletion analysis was done in 79 infertile men. For this, genomic DNA was extracted from the peripheral blood. Seven sets of primers were used encompassing AZFa, AZFb and AZFc regions. Micro-deletions in five of the 79 cases (6.3%) showed deletions of at least one of the STS markers. Deletions were detected with known and unknown aetiology and at least in one of the infertile male with varicocele. AZF micro-deletions seen in idiopathic infertile males suggest the need for molecular screening in non-idiopathic cases.

无精子症因子位点(AZF)被认为包含负责精子发生的基因。在一些与无精子症或少精子症相关的男性不育病例中,这些基因的缺失被认为在病理学上涉及。本文试图确定79例无精子症和少精子症不孕北印度人Y染色体微缺失的患病率。详细的临床检查和内分泌参数也做了。对79例男性不育症患者进行了聚合酶链反应(PCR)微缺失分析。为此,从外周血中提取基因组DNA。共使用了7组引物,分别包含AZFa、AZFb和AZFc区域。79例中有5例(6.3%)的微缺失显示至少有一个STS标记缺失。缺失被发现有已知和未知的病因,至少在一个不育男性精索静脉曲张。在特发性不育男性中发现的AZF微缺失提示在非特发性病例中需要进行分子筛选。
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引用次数: 25
Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending 人类12号染色体的核内排列在中期染色体中表现为非随机弯曲
Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.07.002
A. Plaja , R. Miro , E. Lloveras , E. Sarret , B. Fernandez , J. Egozcue

We have found a high correlation of non-random bending of human metaphase chromosome 12 with the intranuclear arrangement deduced by Nogami et al. (Chromosoma 108 (2000) 514), providing further evidence of the relation of non-random bending and the interphase organization of the nucleus.

我们发现人类中期12号染色体的非随机弯曲与Nogami等人(108号染色体(2000)514号染色体)推断的核内排列高度相关,进一步证明了非随机弯曲与细胞核间期组织的关系。
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引用次数: 1
Androgen receptor gene CAG repeats length in fertile and infertile Tunisian men 雄激素受体基因CAG重复长度在肥沃和不育突尼斯男子
Pub Date : 2004-07-01 DOI: 10.1016/j.anngen.2004.03.010
Lobna Hadjkacem , Hassen Hadj-Kacem , Amel Boulila , Ali Bahloul , Hammadi Ayadi , Leila Ammar-Keskes

Several reports implicated a relation between the trinucleotide (CAG) repeat length in the androgen receptor (AR) gene and male infertility. But such result was not reproduced in others. To test this hypothesis, we investigated the number of (CAG) repeats in the AR gene among two groups of infertile (n = 129) and fertile Tunisian men (n = 98), using polymerase chain reaction (PCR) targeting the AR CAG repeat tract, followed by electrophoresis on polyacrylamide gel (6%). For statistical analysis we used Student, Kolmogorov–Smirnov (KS) and χ2-tests. Significance was reached when P < 0.05. No statistically significant difference in the mean length of the CAG repeat was found between infertile and control groups (P = 0.47). Moreover, using KS test, we have not found a difference in the distribution of allele frequencies between infertile and controls (Dobs = 0.046 < Dcrit = 0.180). We also did not found a statistically significant relationship between the size of the CAG repeat and impaired sperm production in Tunisian population. Our results may be attributed to the high probability that infertile males may represent a heterogeneous group with respect to the causes of defective spermatogenesis.

一些报道暗示雄激素受体(AR)基因中的三核苷酸(CAG)重复长度与男性不育之间的关系。但这一结果并没有在其他研究中重现。为了验证这一假设,我们研究了两组不育(n = 129)和可育(n = 98)突尼斯男性(n = 98)的AR基因中CAG重复序列的数量,采用针对AR CAG重复序列的聚合酶链反应(PCR),然后在聚丙烯酰胺凝胶上电泳(6%)。统计分析采用Student检验、Kolmogorov-Smirnov (KS)检验和χ2检验。P <0.05. 不育组与对照组CAG重复序列平均长度差异无统计学意义(P = 0.47)。此外,使用KS检验,我们没有发现不育和对照之间等位基因频率分布的差异(Dobs = 0.046 <Dcrit = 0.180)。在突尼斯人群中,我们也没有发现CAG重复序列的大小与精子产生受损之间有统计学意义的关系。我们的结果可能归因于高概率不育男性可能代表一个异质组相对于精子发生缺陷的原因。
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引用次数: 18
Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting 与罕见常染色体隐性遗传性状、三体嵌合体和基因组印记相关的母体单亲二体14的表型解剖
Pub Date : 2004-07-01 DOI: 10.1016/j.anngen.2004.03.006
Dieter Kotzot

The phenotype of maternal uniparental disomy of chromosome 14 (upd(14)mat) is characterized by pre and postnatal growth retardation, early onset of puberty, joint laxity, motor delay, and minor dysmorphic features of the face, hands, and feet. Based on a clinical analysis of 24 cases extracted from the literature the phenotype of upd(14)mat was dissected with respect to each symptom’s most likely primary causative: trisomy mosaicism, rare autosomal recessively inherited traits, and the impact of known imprinted genes located on chromosome 14q32. As a result, primary factors are confined placental mosaicism for prenatal growth retardation and one or more imprinted genes, which contribute to the reduced final height by accelerated skeletal maturation. As a secondary effect the latter might also cause early onset of puberty. Other secondary effects might be postnatal adaptation problems associated with neurological deficits such as muscular hypotonia due to premature delivery and reduced birthweight and most dysmorphic features as a consequence of subtle skeletal abnormalities and muscular hypotonia. Considering the rarity of traits such as cleft palate, trisomy mosaicism in the fetus is more likely causative than homozygosity of autosomal recessively inherited mutations. Totally, the variable phenotype of upd(14)mat is mainly the consequence of trisomy mosaicism and genomic imprinting. Rare traits might be due to homozygosity of autosomal recessively inherited mutations.

母亲14号染色体单亲二体(upd(14)mat)的表型特征是产前和产后生长迟缓,青春期早发,关节松弛,运动迟缓,面部,手和脚的轻微畸形特征。根据从文献中提取的24例临床分析,对upd(14)mat的表型进行了解剖,分析了每种症状最可能的主要病因:三体嵌合,罕见的常染色体隐性遗传性状,以及位于染色体14q32上的已知印迹基因的影响。因此,主要因素是产前生长迟缓的受限胎盘嵌合和一个或多个印记基因,它们通过加速骨骼成熟来降低最终身高。作为次要影响,后者也可能导致青春期提前。其他继发性影响可能是与神经功能缺陷相关的产后适应问题,如早产和出生体重减少引起的肌肉张力不足,以及由于细微的骨骼异常和肌肉张力不足引起的大多数畸形特征。考虑到罕见的特征,如腭裂,胎儿的三体嵌合体比常染色体隐性遗传突变的纯合性更有可能导致。总的来说,upd(14)mat的可变表型主要是三体嵌合和基因组印迹的结果。罕见性状可能是由于常染色体隐性遗传突变的纯合性。
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引用次数: 74
期刊
Annales de Génétique
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