首页 > 最新文献

Annales de Génétique最新文献

英文 中文
Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15) Prader-Willi综合征,由于不平衡的易位t导致异常大的15q缺失(4;15)
Pub Date : 2004-07-01 DOI: 10.1016/j.anngen.2004.01.003
Monica C. Varela, Graziela M.P. Lopes, Celia P. Koiffmann

Prader-Willi syndrome (PWS) is a neurobehavioral disorder caused by deletions in the 15q11-q13 region, by maternal uniparental disomy of chromosome 15 or by imprinting defects. Structural rearrangements of chromosome 15 have been described in about 5% of the patients with typical or atypical PWS phenotype. An 8-year-old boy with a clinical diagnosis of PWS, severe neurodevelopmental delay, absence of speech and mental retardation was studied by cytogenetic and molecular techniques, and an unbalanced de novo karyotype 45,XY,der(4)t(4;15)(q35;q14),-15 was detected after GTG-banding. The patient was diagnosed by SNURF-SNRPN exon 1 methylation assay, and the extent of the deletions on chromosomes 4 and 15 was investigated by microsatellite analysis of markers located in 4qter and 15q13-q14 regions. The deletion of chromosome 4q was distal to D4S1652, and that of chromosome 15 was located between D15S1043 and D15S1010. Our patient’s severely affected phenotype could be due to the extent of the deletion, larger than usually seen in PWS patients, although the unbalance of the derivative chromosome 4 cannot be ruled out as another possible cause. The breakpoint was located in the subtelomeric region, very close to the telomere, a region that has been described as having the lowest gene concentrations in the human genome.

Prader-Willi综合征(PWS)是一种由15q11-q13区域缺失、母亲单亲15号染色体二体或印迹缺陷引起的神经行为障碍。在典型或非典型PWS表型的患者中,约有5%的患者出现了15号染色体的结构重排。对临床诊断为PWS、严重神经发育迟缓、言语缺失、智力低下的8岁男孩进行细胞遗传学和分子技术研究,gtg带型检测到45、XY、der(4)t(4;15)(q35;q14)、-15不平衡新生核型。患者通过SNURF-SNRPN外显子1甲基化检测进行诊断,并通过位于4季度和15q13-q14区域的标记进行微卫星分析,研究4和15号染色体上缺失的程度。染色体4q的缺失位于D4S1652的远端,染色体15的缺失位于D15S1043和D15S1010之间。虽然不能排除衍生染色体4的不平衡是另一个可能的原因,但我们患者严重影响的表型可能是由于缺失的程度,比PWS患者通常看到的要大。断点位于亚端粒区域,非常接近端粒,该区域被描述为人类基因组中基因浓度最低的区域。
{"title":"Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15)","authors":"Monica C. Varela,&nbsp;Graziela M.P. Lopes,&nbsp;Celia P. Koiffmann","doi":"10.1016/j.anngen.2004.01.003","DOIUrl":"10.1016/j.anngen.2004.01.003","url":null,"abstract":"<div><p>Prader-Willi syndrome (PWS) is a neurobehavioral disorder caused by deletions in the 15q11-q13 region, by maternal uniparental disomy of chromosome 15 or by imprinting defects. Structural rearrangements of chromosome 15 have been described in about 5% of the patients with typical or atypical PWS phenotype. An 8-year-old boy with a clinical diagnosis of PWS, severe neurodevelopmental delay, absence of speech and mental retardation was studied by cytogenetic and molecular techniques, and an unbalanced <em>de novo</em> karyotype 45,XY,der(4)t(4;15)(q35;q14),-15 was detected after GTG-banding. The patient was diagnosed by SNURF-SNRPN exon 1 methylation assay, and the extent of the deletions on chromosomes 4 and 15 was investigated by microsatellite analysis of markers located in 4qter and 15q13-q14 regions. The deletion of chromosome 4q was distal to <em>D4S1652</em>, and that of chromosome 15 was located between <em>D15S1043</em> and <em>D15S1010</em>. Our patient’s severely affected phenotype could be due to the extent of the deletion, larger than usually seen in PWS patients, although the unbalance of the derivative chromosome 4 cannot be ruled out as another possible cause. The breakpoint was located in the subtelomeric region, very close to the telomere, a region that has been described as having the lowest gene concentrations in the human genome.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 3","pages":"Pages 267-273"},"PeriodicalIF":0.0,"publicationDate":"2004-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.01.003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24659926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 18
Inherited ring chromosome 8 without loss of subtelomeric sequences 没有亚端粒序列丢失的遗传环染色体8
Pub Date : 2004-07-01 DOI: 10.1016/j.anngen.2003.10.005
Cedric Le Caignec , Michelle Boceno , Sebastien Jacquemont , Sylvie Nguyen The Tich , Jean-Marie Rival , Albert David

We report the first case of inherited ring chromosome 8 syndrome without loss of subtelomeric sequences. The proband is a 6 1/2-year-old boy with short stature, microcephaly, mild mental retardation, and behavioral problems including hyperactivity and attention deficit. His mother presented the same physical features but intelligence was normal. Family history also revealed an uncle and a grandmother, with short stature and microcephaly. Moderate mental retardation was reported in the uncle. Karyotypes and fluorescence in situ hybridization (FISH) analyses were performed on peripheral blood lymphocytes for both child and mother. The child’s karyotype was reported as 46,XY,r(8)(p23q24.3)[24]/45,XY,–8[2] and the mother’s karyotype 46,XX,r(8)(p23q24.3)[22]/45,XX,–8[2]/47,XX,r(8)(p23q24.3), +r(8)(p23q24.3)[1]. FISH studies showed no deletion of subtelomeric sequences for both child and mother indicating that no or little chromosomal euchromatic material has been deleted. These findings indicate that ring chromosome 8 without loss of subtelomeric sequences can be inherited and that carriers in a same family present with cognitive function ranging from mild mental retardation to normal intelligence.

我们报告的第一例遗传性环染色体8综合征没有丢失的亚端粒序列。先证者是一个6岁半的男孩,有身材矮小,小头畸形,轻度智力迟钝,以及多动和注意力缺陷等行为问题。他的母亲表现出相同的身体特征,但智力正常。家族病史还显示,他有一位叔叔和一位祖母,身材矮小,患有小头症。据报道,叔父患有中度智力迟钝。对儿童和母亲外周血淋巴细胞进行核型和荧光原位杂交(FISH)分析。儿童核型为46,XY,r(8)(p23q24.3)[24]/45,XY, -8[2],母亲核型为46,XX,r(8)(p23q24.3)[22]/45,XX, -8 [2]/47,XX,r(8)(p23q24.3), +r(8)(p23q24.3)[1]。FISH研究显示,孩子和母亲的亚端粒序列都没有缺失,这表明没有或很少的染色体常染色质被删除。这些发现表明,不丢失亚端粒序列的8号环染色体可以遗传,同一家族的携带者具有从轻度智力迟钝到正常智力的认知功能。
{"title":"Inherited ring chromosome 8 without loss of subtelomeric sequences","authors":"Cedric Le Caignec ,&nbsp;Michelle Boceno ,&nbsp;Sebastien Jacquemont ,&nbsp;Sylvie Nguyen The Tich ,&nbsp;Jean-Marie Rival ,&nbsp;Albert David","doi":"10.1016/j.anngen.2003.10.005","DOIUrl":"10.1016/j.anngen.2003.10.005","url":null,"abstract":"<div><p>We report the first case of inherited ring chromosome 8 syndrome without loss of subtelomeric sequences. The proband is a 6 1/2-year-old boy with short stature, microcephaly, mild mental retardation, and behavioral problems including hyperactivity and attention deficit. His mother presented the same physical features but intelligence was normal. Family history also revealed an uncle and a grandmother, with short stature and microcephaly. Moderate mental retardation was reported in the uncle. Karyotypes and fluorescence in situ hybridization (FISH) analyses were performed on peripheral blood lymphocytes for both child and mother. The child’s karyotype was reported as 46,XY,r(8)(p23q24.3)[24]/45,XY,–8[2] and the mother’s karyotype 46,XX,r(8)(p23q24.3)[22]/45,XX,–8[2]/47,XX,r(8)(p23q24.3), +r(8)(p23q24.3)[1]. FISH studies showed no deletion of subtelomeric sequences for both child and mother indicating that no or little chromosomal euchromatic material has been deleted. These findings indicate that ring chromosome 8 without loss of subtelomeric sequences can be inherited and that carriers in a same family present with cognitive function ranging from mild mental retardation to normal intelligence.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 3","pages":"Pages 289-296"},"PeriodicalIF":0.0,"publicationDate":"2004-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2003.10.005","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24659932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 25
Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18 复发近端18p单体和18q三体在一个家庭与母亲18号染色体的中心反转
Pub Date : 2004-07-01 DOI: 10.1016/j.anngen.2004.03.007
K. Prabhakara , Herman E. Wyandt , Xin L. Huang , K.Suma Prasad , A.Radha Ramadevi

We report a recurrent partial monosomy of 18p10→11.2 and proximal partial trisomy of 18q10→21.3 caused by a maternal pericentric inversion of chromosome 18, involving breakpoints p11.2 and q21q21.3 Based on cytogenetics and FISH analysis, we speculate that the recurrent chromosome abnormality in the proband and in the fetus was the result of a translocation, possibly in a germ cell or germ cell precursor, between the maternal normal 18 and her inverted 18, resulting in maternal germinal mosaicism, i.e. 46,XX,inv(18)/46,XX,t[18;inv(18)][q10;q10]. The unbalanced karyotype of the proband and the fetus is 46,XY,+18,der[18;inv(18)][q10;q10]. To the best of our knowledge, there are no reports of this combination of proximal 18p monosomy and proximal 18q trisomy. The other interesting observation was association of Hirschsprung’s disease in the proband.

我们报道了18p10→11.2和18q10→21.3的近端部分三体是由母体18号染色体的中心周围倒位引起的,包括p11.2和q21q21.3的断点。基于细胞遗传学和FISH分析,我们推测先证和胎儿中反复出现的染色体异常是由于母体正常18号和倒位的18号之间的生殖细胞或生殖细胞前体易位的结果。导致母体萌发嵌合,即46,XX,inv(18)/46,XX,t[18;inv(18)][q10;q10]。先证者与胎儿核型不平衡为46、XY、+18、der[18;inv(18)][q10;q10]。据我们所知,尚无近端18p单体和近端18q三体合并的报道。另一个有趣的观察结果是先证者与先天性巨结肠病的关系。
{"title":"Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18","authors":"K. Prabhakara ,&nbsp;Herman E. Wyandt ,&nbsp;Xin L. Huang ,&nbsp;K.Suma Prasad ,&nbsp;A.Radha Ramadevi","doi":"10.1016/j.anngen.2004.03.007","DOIUrl":"10.1016/j.anngen.2004.03.007","url":null,"abstract":"<div><p>We report a recurrent partial monosomy of 18p10→11.2 and proximal partial trisomy of 18q10→21.3 caused by a maternal pericentric inversion of chromosome 18, involving breakpoints p11.2 and q21q21.3 Based on cytogenetics and FISH analysis, we speculate that the recurrent chromosome abnormality in the proband and in the fetus was the result of a translocation, possibly in a germ cell or germ cell precursor, between the maternal normal 18 and her inverted 18, resulting in maternal germinal mosaicism, i.e. 46,XX,inv(18)/46,XX,t[18;inv(18)][q10;q10]. The unbalanced karyotype of the proband and the fetus is 46,XY,+18,der[18;inv(18)][q10;q10]. To the best of our knowledge, there are no reports of this combination of proximal 18p monosomy and proximal 18q trisomy. The other interesting observation was association of Hirschsprung’s disease in the proband.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 3","pages":"Pages 297-303"},"PeriodicalIF":0.0,"publicationDate":"2004-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.03.007","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24659934","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 8
Chromosome 22q11.2 microdeletion in a patient with hemophilia A a型血友病患者染色体22q11.2微缺失的研究
Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2003.11.001
Murat Derbent , Namık Özbek , Füsun Alehan , Zerrin Yılmaz

We report a 6-year-old patient with hemophilia A, who also exhibited clinical features typical of 22q11.2 deletion syndrome (22qDS). The specific traits were mild mental retardation, speech delay, hypernasal speech, deficits in voice quality and articulation, narrow palpebral fissures, broad and depressed nasal root, high-arched palate, microstomia, and overfolded ears. The patient had no associated congenital cardiac or palatal malformations. It can be particularly difficult to identify this syndrome in newborns and infants without congenital heart defects. This case underlines that microdeletion of chromosome 22q11.2 should be considered in any patient who exhibits typical clinical features of 22qDS, regardless of whether they have another single-gene disorder.

我们报告了一名6岁的a型血友病患者,他也表现出22q11.2缺失综合征(22qDS)的典型临床特征。具体表现为轻度智力低下、言语迟缓、鼻音过重、音质和发音缺陷、睑裂狭窄、鼻根宽凹陷、上颚高弓、小口、双耳叠耳。患者没有相关的先天性心脏或腭畸形。在新生儿和没有先天性心脏缺陷的婴儿中识别这种综合征尤其困难。该病例强调,任何表现出22qDS典型临床特征的患者,无论是否患有其他单基因疾病,都应考虑染色体22q11.2的微缺失。
{"title":"Chromosome 22q11.2 microdeletion in a patient with hemophilia A","authors":"Murat Derbent ,&nbsp;Namık Özbek ,&nbsp;Füsun Alehan ,&nbsp;Zerrin Yılmaz","doi":"10.1016/j.anngen.2003.11.001","DOIUrl":"10.1016/j.anngen.2003.11.001","url":null,"abstract":"<div><p>We report a 6-year-old patient with hemophilia A, who also exhibited clinical features typical of 22q11.2 deletion syndrome (22qDS). The specific traits were mild mental retardation, speech delay, hypernasal speech, deficits in voice quality and articulation, narrow palpebral fissures, broad and depressed nasal root, high-arched palate, microstomia, and overfolded ears. The patient had no associated congenital cardiac or palatal malformations. It can be particularly difficult to identify this syndrome in newborns and infants without congenital heart defects. This case underlines that microdeletion of chromosome 22q11.2 should be considered in any patient who exhibits typical clinical features of 22qDS, regardless of whether they have another single-gene disorder.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 2","pages":"Pages 181-184"},"PeriodicalIF":0.0,"publicationDate":"2004-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2003.11.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24554156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Prenatal diagnosis of an interstitial 12q chromosome deletion 间质性12q染色体缺失的产前诊断
Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2003.10.006
C. Pérez Sánchez , F. Ayensa , E. Lloveras , L. Zamora , V. Cirigliano , E. Pérez , A. Plaja

Rearregements involving long arm of chromosome 12 are rare events. To our knowledge, we present the first case of an interstitial deletion of the long arm of chromosome 12 in a prenatal diagnosis. A review of the literature is included in our report.

涉及12号染色体长臂的重排是罕见的事件。据我们所知,我们提出的第一例间质性缺失的长臂染色体12在产前诊断。我们的报告中包括了文献综述。
{"title":"Prenatal diagnosis of an interstitial 12q chromosome deletion","authors":"C. Pérez Sánchez ,&nbsp;F. Ayensa ,&nbsp;E. Lloveras ,&nbsp;L. Zamora ,&nbsp;V. Cirigliano ,&nbsp;E. Pérez ,&nbsp;A. Plaja","doi":"10.1016/j.anngen.2003.10.006","DOIUrl":"10.1016/j.anngen.2003.10.006","url":null,"abstract":"<div><p>Rearregements involving long arm of chromosome 12 are rare events. To our knowledge, we present the first case of an interstitial deletion of the long arm of chromosome 12 in a prenatal diagnosis. A review of the literature is included in our report.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 2","pages":"Pages 177-179"},"PeriodicalIF":0.0,"publicationDate":"2004-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2003.10.006","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24554162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 6
Meiotic studies of infertile men in case of non-obstructive azoospermia with normal karyotype and no microdeleted Y-chromosome precise the clinical couple management 核型正常且无微缺失y染色体的非阻塞性无精子症男性不育患者的减数分裂研究为临床夫妻管理提供了参考
Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2003.10.003
Marie-Odile North , Ilona Lellei , Edit Erdei , Jacques Patrick Barbet , Joseph Tritto

To identify meiotic criteria for infertility management in non-obstructive azoospermic men, a prospective and multicentric study was organized in Andrological Departments of Paris (France), Roma (Italy) and Budapest (Hungary). In 117 non-obstructive azoospermic men with normal karyotype and no Y-chromosome microdeletion, histology and meiotic studies on bilateral bipolar testicular biopsies were done. Histologically, 40 patients (34%) presented spermatocyte or spermatid arrest, 39 (33%) hypospermatogenesis whereas no meiotic cell could be observed in the remaining patients (33%). Cytogenetically, meiotic figures could only be obtained from the two first histological groups. Meiotic abnormalities were observed in a total of 44 patients (37.6%) including nine patients (7.7%) with severe class I and class IIB anomalies and 19 patients (16.2%) with class IIC environmentally linked meiotic abnormalities. These results provided essential clues for an accurate clinical management. For patients with no meiotic figures and patients with class I and class IIB anomalies, an hormonal stimulation is illusory and a sperm gift should be directly proposed. An hormonal stimulation should be proposed to all the other patients, either directly or following the treatment of the testicular microenvironment for the patients presenting class IIC anomalies. The genetic risk and possibility of prenatal chromosomal analysis in case of pregnancy should be clearly exposed to all the couples in all the cases where type IIA, III or IV anomalies are present. This therapeutical strategy has been applied to all the patients in our series.

为了确定非阻塞性无精子症男性不孕症治疗的减数分裂标准,在法国巴黎、意大利罗马和匈牙利布达佩斯的男科组织了一项前瞻性多中心研究。对117例核型正常、无y染色体微缺失的无梗阻性无精子男性进行双侧睾丸活检组织学和减数分裂研究。组织学上,40例(34%)患者出现精母细胞或精子细胞阻滞,39例(33%)出现精子发育不足,而其余患者(33%)未观察到减数分裂细胞。细胞遗传学上,减数分裂图像只能从两个前组织学组获得。共有44例(37.6%)患者观察到减数分裂异常,其中9例(7.7%)为严重I级和IIB级异常,19例(16.2%)为IIC级环境相关减数分裂异常。这些结果为准确的临床处理提供了重要的线索。对于无减数分裂数字的患者和I类和IIB类异常患者,激素刺激是虚幻的,应直接提出精子赠予。对于出现IIC类异常的患者,应直接或在睾丸微环境治疗后对所有其他患者进行激素刺激。在所有存在IIA、III或IV型异常的情况下,应向所有夫妇清楚地说明妊娠的遗传风险和产前染色体分析的可能性。这种治疗策略已应用于我们系列的所有患者。
{"title":"Meiotic studies of infertile men in case of non-obstructive azoospermia with normal karyotype and no microdeleted Y-chromosome precise the clinical couple management","authors":"Marie-Odile North ,&nbsp;Ilona Lellei ,&nbsp;Edit Erdei ,&nbsp;Jacques Patrick Barbet ,&nbsp;Joseph Tritto","doi":"10.1016/j.anngen.2003.10.003","DOIUrl":"10.1016/j.anngen.2003.10.003","url":null,"abstract":"<div><p>To identify meiotic criteria for infertility management in non-obstructive azoospermic men, a prospective and multicentric study was organized in Andrological Departments of Paris (France), Roma (Italy) and Budapest (Hungary). In 117 non-obstructive azoospermic men with normal karyotype and no Y-chromosome microdeletion, histology and meiotic studies on bilateral bipolar testicular biopsies were done. Histologically, 40 patients (34%) presented spermatocyte or spermatid arrest, 39 (33%) hypospermatogenesis whereas no meiotic cell could be observed in the remaining patients (33%). Cytogenetically, meiotic figures could only be obtained from the two first histological groups. Meiotic abnormalities were observed in a total of 44 patients (37.6%) including nine patients (7.7%) with severe class I and class IIB anomalies and 19 patients (16.2%) with class IIC environmentally linked meiotic abnormalities. These results provided essential clues for an accurate clinical management. For patients with no meiotic figures and patients with class I and class IIB anomalies, an hormonal stimulation is illusory and a sperm gift should be directly proposed. An hormonal stimulation should be proposed to all the other patients, either directly or following the treatment of the testicular microenvironment for the patients presenting class IIC anomalies. The genetic risk and possibility of prenatal chromosomal analysis in case of pregnancy should be clearly exposed to all the couples in all the cases where type IIA, III or IV anomalies are present. This therapeutical strategy has been applied to all the patients in our series.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 2","pages":"Pages 113-123"},"PeriodicalIF":0.0,"publicationDate":"2004-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2003.10.003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24553181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Genealogical study of myotonic dystrophy in Istria (Croatia) 伊斯特拉(克罗地亚)肌强直性营养不良的家谱研究
Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2003.08.026
I. Medica , N. Logar , D. Leonardelli Mileta , B. Peterlin

High prevalence of myotonic dystrophy (DM) of 18.1 per 100,000 has been found in Croatian region Istria, a region where a great mixture of nations occurred over the last three centuries. The objective of this study was to test the hypothesis of common ancestry in Istrian DM families. Pedigrees were constructed on the basis of extensive family history obtained from the patients in all Istrian DM families. Church records were consulted in order to improve genealogical reconstruction. Additionally, we performed haplotype analyses with two intragenic and three extragenic DNA polymorphic markers. A common ancestor couple for three of nine nucleus families was found eight generations backward, which was supported by haplotype analysis. In spite of finding an evidence of common ancestry in Croatian Istria we argue that the phenomenon of founder effect is not sufficient to explain the high DM prevalence in Istria.

在克罗地亚伊斯特拉地区,肌强直性营养不良症(DM)的患病率高达18.1 / 10万,该地区在过去的三个世纪里发生了大量的民族混合。本研究的目的是检验伊斯特拉糖尿病家族共同祖先的假设。谱系是在所有伊斯特拉糖尿病家族患者广泛家族史的基础上建立的。为了改进家谱重建,查阅了教会的记录。此外,我们使用两个基因内和三个基因外DNA多态性标记进行了单倍型分析。9个核心家族中有3个家族在8代前发现了共同的祖先,单倍型分析支持了这一观点。尽管在克罗地亚伊斯特拉发现了共同祖先的证据,但我们认为创始人效应现象不足以解释伊斯特拉的高糖尿病患病率。
{"title":"Genealogical study of myotonic dystrophy in Istria (Croatia)","authors":"I. Medica ,&nbsp;N. Logar ,&nbsp;D. Leonardelli Mileta ,&nbsp;B. Peterlin","doi":"10.1016/j.anngen.2003.08.026","DOIUrl":"10.1016/j.anngen.2003.08.026","url":null,"abstract":"<div><p>High prevalence of myotonic dystrophy (DM) of 18.1 per 100,000 has been found in Croatian region Istria, a region where a great mixture of nations occurred over the last three centuries. The objective of this study was to test the hypothesis of common ancestry in Istrian DM families. Pedigrees were constructed on the basis of extensive family history obtained from the patients in all Istrian DM families. Church records were consulted in order to improve genealogical reconstruction. Additionally, we performed haplotype analyses with two intragenic and three extragenic DNA polymorphic markers. A common ancestor couple for three of nine nucleus families was found eight generations backward, which was supported by haplotype analysis. In spite of finding an evidence of common ancestry in Croatian Istria we argue that the phenomenon of founder effect is not sufficient to explain the high DM prevalence in Istria.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 2","pages":"Pages 139-146"},"PeriodicalIF":0.0,"publicationDate":"2004-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2003.08.026","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24553186","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 6
Cytogenetics and fluorescence in situ hybridization assessment of sex-chromosome mosaicism in Klinefelter’s syndrome 克氏综合征性染色体嵌合体的细胞遗传学和荧光原位杂交评价
Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2003.08.024
Nouha Bouayed Abdelmoula , Ahlem Amouri , Marie-France Portnoi , Ali Saad , Tahia Boudawara , Mohamed Nabil Mhiri, Ali Bahloul , Tarek Rebai

A retrospective study was carried out in 152 infertile men to determine the prevalence of sex chromosome abnormalities among non-obstructive azoospermic and severe oligospermic men (n = 51) and to evaluate the feasibility of fluorescence in situ hybridization (FISH) techniques to assess mosaicism in Klinefelter’s patients in comparison with conventional cytogenetics. Cytogenetic analysis were performed for 51 infertile men and among 14 chromosomal abnormalities found, nine were compatible with Klinefelter’s syndrome. FISH staining with a CEP X/CEP Y probes were performed for Klinefelter’s patients and for five of them; testes were biopsied for histopathologic examination. Six Klinefelter’s patients showed a non-mosaic 47,XXY and three showed a 47,XXY/46,XY mosaic by G or R banding analysis of 20 cells with a ratio of 17%, 20% and 33%, respectively. FISH analysis confirmed mosaicism in only one patient (the first) in whom a third cells population was found. There was no relationship between the ratios of mosaicism by banding and FISH analysis. Conventional histopathologic findings in five non-mosaic Klinefelter’s patients confirm the diagnosis of Sertoli Only Cells syndrome. FISH is recommended in Klinefelter’s syndrome to define exactly the cytogenetic statute as mosaic or non-mosaic and then discussing prognosis and decision regarding fertility counseling.

对152名不育症男性进行回顾性研究,以确定非阻塞性无精子症和严重少精子症男性(n = 51)中性染色体异常的患病率,并评估荧光原位杂交(FISH)技术与传统细胞遗传学相比评估Klinefelter患者嵌合现象的可行性。对51名不育男性进行了细胞遗传学分析,在发现的14例染色体异常中,有9例与克氏综合征相符。用CEP X/CEP Y探针对5例Klinefelter患者进行FISH染色;取睾丸活检进行组织病理学检查。6例Klinefelter 's患者的20个细胞G或R显带分析显示47、XXY/46、XY嵌合,分别为17%、20%和33%。FISH分析证实只有一个病人(第一个)存在嵌合现象,而在这个病人身上发现了第三个细胞群。条带嵌合率与FISH分析无相关性。5例非花叶性Klinefelter患者的常规组织病理学结果证实了仅支持细胞综合征的诊断。在Klinefelter综合征中,FISH被推荐用于精确地定义细胞遗传学规律为嵌合体或非嵌合体,然后讨论预后和生育咨询的决定。
{"title":"Cytogenetics and fluorescence in situ hybridization assessment of sex-chromosome mosaicism in Klinefelter’s syndrome","authors":"Nouha Bouayed Abdelmoula ,&nbsp;Ahlem Amouri ,&nbsp;Marie-France Portnoi ,&nbsp;Ali Saad ,&nbsp;Tahia Boudawara ,&nbsp;Mohamed Nabil Mhiri,&nbsp;Ali Bahloul ,&nbsp;Tarek Rebai","doi":"10.1016/j.anngen.2003.08.024","DOIUrl":"10.1016/j.anngen.2003.08.024","url":null,"abstract":"<div><p>A retrospective study was carried out in 152 infertile men to determine the prevalence of sex chromosome abnormalities among non-obstructive azoospermic and severe oligospermic men (<em>n</em> = 51) and to evaluate the feasibility of fluorescence in situ hybridization (FISH) techniques to assess mosaicism in Klinefelter’s patients in comparison with conventional cytogenetics. Cytogenetic analysis were performed for 51 infertile men and among 14 chromosomal abnormalities found, nine were compatible with Klinefelter’s syndrome. FISH staining with a CEP X/CEP Y probes were performed for Klinefelter’s patients and for five of them; testes were biopsied for histopathologic examination. Six Klinefelter’s patients showed a non-mosaic 47,XXY and three showed a 47,XXY/46,XY mosaic by G or R banding analysis of 20 cells with a ratio of 17%, 20% and 33%, respectively. FISH analysis confirmed mosaicism in only one patient (the first) in whom a third cells population was found. There was no relationship between the ratios of mosaicism by banding and FISH analysis. Conventional histopathologic findings in five non-mosaic Klinefelter’s patients confirm the diagnosis of Sertoli Only Cells syndrome. FISH is recommended in Klinefelter’s syndrome to define exactly the cytogenetic statute as mosaic or non-mosaic and then discussing prognosis and decision regarding fertility counseling.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 2","pages":"Pages 163-175"},"PeriodicalIF":0.0,"publicationDate":"2004-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2003.08.024","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24554159","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 33
Consanguineous marriages in the province of Antalya, Turkey 土耳其安塔利亚省的近亲婚姻
Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2003.09.001
Ö.M. Alper , H. Erengin , A. E Manguoğlu , T. Bilgen , Z. Çetin , N. Dedeoğlu , G. Lüleci

To assess the trends in the frequency and the medical effects of consanguinity in the south coast of Turkish population using local and national data in the last 11 years. This cross-sectional study was carried out in Manavgat province, which is a major tourism center on the Mediterranean coast of Turkey. The authors studied consanguineous marriages in rural and urban population in the Mediterranean coast, Manavgat province, Turkey, via a 1500 random survey sample of married couples. There has been a significant increase in the incidence of consanguineous marriages in rural areas (40.7%) since 1989 in the southern population of Turkey. The results showed that the most frequent type of marriage was between the first cousins. It is found that there is no statistically significant difference between the consanguineous and non-consanguineous marriages in the different age groups. The results were discussed on the basis of educational status, reasons for having consanguineous marriages and the general medical effects as well as with the relation of congenital malformations. The custom of consanguineous unions in the Mediterranean population of Turkey is still extremely high, and preventive measures should be done to decrease its frequency and associated complications.

利用过去11年的地方和国家数据,评估土耳其南部沿海人口中血亲关系发生频率和医疗影响的趋势。这项横断面研究是在土耳其地中海沿岸的主要旅游中心马纳夫加特省进行的。作者通过对1500对已婚夫妇的随机抽样调查,研究了土耳其马纳夫加特省地中海沿岸农村和城市人口的近亲婚姻。自1989年以来,土耳其南部农村地区的近亲婚姻发生率显著增加(40.7%)。结果显示,最常见的婚姻类型是表亲之间的婚姻。研究发现,不同年龄组的近亲婚姻与非近亲婚姻的差异无统计学意义。从受教育程度、近亲结婚原因、一般医疗效果以及与先天性畸形的关系等方面对结果进行了探讨。土耳其地中海人口近亲结合的习俗仍然非常高,应采取预防措施以减少其频率和相关并发症。
{"title":"Consanguineous marriages in the province of Antalya, Turkey","authors":"Ö.M. Alper ,&nbsp;H. Erengin ,&nbsp;A. E Manguoğlu ,&nbsp;T. Bilgen ,&nbsp;Z. Çetin ,&nbsp;N. Dedeoğlu ,&nbsp;G. Lüleci","doi":"10.1016/j.anngen.2003.09.001","DOIUrl":"10.1016/j.anngen.2003.09.001","url":null,"abstract":"<div><p>To assess the trends in the frequency and the medical effects of consanguinity in the south coast of Turkish population using local and national data in the last 11 years. This cross-sectional study was carried out in Manavgat province, which is a major tourism center on the Mediterranean coast of Turkey. The authors studied consanguineous marriages in rural and urban population in the Mediterranean coast, Manavgat province, Turkey, via a 1500 random survey sample of married couples. There has been a significant increase in the incidence of consanguineous marriages in rural areas (40.7%) since 1989 in the southern population of Turkey. The results showed that the most frequent type of marriage was between the first cousins. It is found that there is no statistically significant difference between the consanguineous and non-consanguineous marriages in the different age groups. The results were discussed on the basis of educational status, reasons for having consanguineous marriages and the general medical effects as well as with the relation of congenital malformations. The custom of consanguineous unions in the Mediterranean population of Turkey is still extremely high, and preventive measures should be done to decrease its frequency and associated complications.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 2","pages":"Pages 129-138"},"PeriodicalIF":0.0,"publicationDate":"2004-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2003.09.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24553183","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 74
Genotype and allele frequency of PAI-1 promoter polymorphism in healthy subjects from the west of Mexico. Association with biochemical and hematological parameters 墨西哥西部健康人群PAI-1启动子多态性的基因型和等位基因频率与生化和血液学参数的关联
Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2003.12.001
Sandra Ruiz-Quezada , Mónica Vázquez-Del Mercado , Isela Parra-Rojas , Héctor Rangel-Villalobos , Carlos Best-Aguilera , Laura Verónica Sánchez-Orozco , José Francisco Muñoz-Valle

We investigated the genotype and allelic frequency of the –675 bp insertion/deletion polymorphism at the PAI-1 gene promoter, in healthy Mexican subjects. It was compared to the lipid profile and hematological parameters, and to other healthy worldwide populations. A Mexican population sample of 110 individuals was studied. Demographic data and clinical characteristics of the subjects were registered. Fasting lipid profile, serum glucose, fibrinogen, hematological parameters and leukocyte genomic DNA isolation from peripheral blood were performed in all the participants. Screening of the PAI-1 genotype was done by PCR and restriction analysis. Genotype 4G/4G, 4G/5G, 5G/5G frequency in Mexican healthy subjects was: 14.55%, 39.09%, 46.36%, respectively, whereas the allelic frequency for 5G allele was 65.9%. A significant lesser frequency for 4G allele and related genotypes (4G/4G and 4G/5G) was established in healthy subjects from Mexico, respect to all the compared populations. A particular genotype and allelic frequency of this PAI-1 polymorphism was established in Mexico. The clinical parameters were not associated according to each genotype of PAI-1.

我们研究了墨西哥健康受试者PAI-1基因启动子-675 bp插入/缺失多态性的基因型和等位基因频率。将其与血脂和血液学参数以及世界上其他健康人群进行比较。研究了墨西哥110个个体的种群样本。登记受试者的人口学资料和临床特征。对所有参与者进行空腹血脂、血糖、纤维蛋白原、血液学参数和外周血白细胞基因组DNA分离。采用PCR和限制性内切法筛选PAI-1基因型。墨西哥健康人4G/4G、4G/5G、5G/5G基因型频率分别为14.55%、39.09%、46.36%,5G等位基因频率为65.9%。与所有比较人群相比,在墨西哥健康受试者中发现4G等位基因和相关基因型(4G/4G和4G/5G)的频率明显较低。在墨西哥建立了PAI-1多态性的特定基因型和等位基因频率。PAI-1各基因型的临床参数无相关性。
{"title":"Genotype and allele frequency of PAI-1 promoter polymorphism in healthy subjects from the west of Mexico. Association with biochemical and hematological parameters","authors":"Sandra Ruiz-Quezada ,&nbsp;Mónica Vázquez-Del Mercado ,&nbsp;Isela Parra-Rojas ,&nbsp;Héctor Rangel-Villalobos ,&nbsp;Carlos Best-Aguilera ,&nbsp;Laura Verónica Sánchez-Orozco ,&nbsp;José Francisco Muñoz-Valle","doi":"10.1016/j.anngen.2003.12.001","DOIUrl":"10.1016/j.anngen.2003.12.001","url":null,"abstract":"<div><p>We investigated the genotype and allelic frequency of the –675 bp insertion/deletion polymorphism at the <em>PAI-1</em> gene promoter, in healthy Mexican subjects. It was compared to the lipid profile and hematological parameters, and to other healthy worldwide populations. A Mexican population sample of 110 individuals was studied. Demographic data and clinical characteristics of the subjects were registered. Fasting lipid profile, serum glucose, fibrinogen, hematological parameters and leukocyte genomic DNA isolation from peripheral blood were performed in all the participants. Screening of the <em>PAI-1</em> genotype was done by PCR and restriction analysis. Genotype 4G/4G, 4G/5G, 5G/5G frequency in Mexican healthy subjects was: 14.55%, 39.09%, 46.36%, respectively, whereas the allelic frequency for 5G allele was 65.9%. A significant lesser frequency for 4G allele and related genotypes (4G/4G and 4G/5G) was established in healthy subjects from Mexico, respect to all the compared populations. A particular genotype and allelic frequency of this <em>PAI-1</em> polymorphism was established in Mexico. The clinical parameters were not associated according to each genotype of <em>PAI-1.</em></p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 2","pages":"Pages 155-162"},"PeriodicalIF":0.0,"publicationDate":"2004-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2003.12.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24553185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 36
期刊
Annales de Génétique
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1