Annales de genetique最新文献_第9页

Chromosome aberrations after radiotherapy in patients treated for non Hodgkin's lymphoma. 非霍奇金淋巴瘤放疗后的染色体畸变。

Annales de genetique Pub Date : 1997-01-01

M A Mahé, M J André, E Moyon, A Le Mevel, P Soubeyran, M Hamidou, N Milpied, S Bourdin, J C Cuillière, J F Chatal

引用次数: 0

Identical chromosome imbalance in two siblings born to a mother with a double reciprocal translocation. 同一母亲所生的两个兄弟姐妹的同卵染色体不平衡，有双反向易位。

Annales de genetique Pub Date : 1997-01-01

C Yardin, F Esclaire, B Gilbert, P Brosset, J Hugon, D Barthe

引用次数: 0

Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children). 马赛克四体12p或Pallister-Killian综合征(19例胎儿或儿童)的合作研究。

Annales de genetique Pub Date : 1997-01-01

M Mathieu, C Piussan, F Thepot, A Gouget, D Lacombe, J M Pedespan, F Serville, D Fontan, M Ruffie, A Nivelon-Chevallier, F Amblard, P Chauveau, H Moirot, J P Chabrolle, M F Croquette, M Teyssier, H Plauchu, M C Pelissier, S Gilgenkrantz, C Turc-Carel, C Turleau, M Prieur, M Le Merrer, M Gonzales, H Journel

{"title":"Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children).","authors":"M Mathieu, C Piussan, F Thepot, A Gouget, D Lacombe, J M Pedespan, F Serville, D Fontan, M Ruffie, A Nivelon-Chevallier, F Amblard, P Chauveau, H Moirot, J P Chabrolle, M F Croquette, M Teyssier, H Plauchu, M C Pelissier, S Gilgenkrantz, C Turc-Carel, C Turleau, M Prieur, M Le Merrer, M Gonzales, H Journel","doi":"","DOIUrl":"","url":null,"abstract":"The difficulties in the diagnosis of Pallister-Killian syndrome are illustrated in this study of nineteen fetuses and children. Diagnosis based on clinical appearance alone is often difficult due to the broad spectrum of clinical anomalies not specific to this syndrome. Due to mosaicism, it is altogether necessary to examine several tissues for the presence of tetrasomy 12p, including circulating lymphocytes in which mosaicism can be as low as 1-3%, amniocytes, chorionic cells and skin fibro-blasts in which mosaicism ranges from 6-100%. When highly suspected on ultrasound examination, the diagnosis recommends prenatal cytogenetic studies because survivors are severely mentally retarded. All the cases are sporadic with only a single preliminary report of recurrence. The cytogenetic diagnosis is therefore helpful in order to reassure family members in regard to genetic counseling.","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"40 1","pages":"45-54"},"PeriodicalIF":0.0,"publicationDate":"1997-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20098392","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: 0

Molecular diagnosis of congenital bilateral absence of the vas deferens: analyses of the CFTR gene in 64 French patients. 先天性双侧输精管缺失的分子诊断:64例法国患者CFTR基因分析。

Annales de genetique Pub Date : 1997-01-01

T Bienvenu, M Adjiman, N Thiounn, M Jeanpierre, D Hubert, J Lepercoq, C Francoual, J Wolf, V Izard, P Jouannet, J C Kaplan, C Beldjord

{"title":"Molecular diagnosis of congenital bilateral absence of the vas deferens: analyses of the CFTR gene in 64 French patients.","authors":"T Bienvenu, M Adjiman, N Thiounn, M Jeanpierre, D Hubert, J Lepercoq, C Francoual, J Wolf, V Izard, P Jouannet, J C Kaplan, C Beldjord","doi":"","DOIUrl":"","url":null,"abstract":"Congenital bilateral absence of the vas deferens is a congenital reproductive disorder that affects about one in 1000 male individuals. Screening of the entire coding and flanking sequences of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 64 males with CBAVD revealed that in only 23% CBAVD was caused by two CFTR mutations. The 5T allele in one copy, that causes reduced levels of the normal CFTR protein, in combination with a CFTR mutation in the other copy, was one of the most common causes of CBAVD. Twenty six per cent of men with CBAVD had the 5T allele. The presence of only one CFTR mutation or the 5T allele in 34% of patients suggests that undetected changes in CFTR may be involved in CBAVD. These molecular defects are probably mutations with partial penetrance. Moreover, the high proportion (20%) of patients with CBAVD who did not have CFTR mutations or the 5T allele allows to propose that another gene or genes could be responsible for CBAVD. In these cases, in vitro fertilization may be required and the genetic counselling appears to be very complex and additional studies, including CFTR mRNA and linkage analyses, are required to resolve these questions.","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"40 1","pages":"5-9"},"PeriodicalIF":0.0,"publicationDate":"1997-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20098414","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: 0

Clinical applications of primed in situ labelling (PRINS) rapid identification of a marker chromosome in a fetus. 引物原位标记(PRINS)快速鉴定胎儿标记染色体的临床应用。

Annales de genetique Pub Date : 1997-01-01

G V Velagaleti, N J Carpenter, A T Tharapel

引用次数: 0

Homozygosity for pericentric inversions of chromosome 9. Prenatal diagnosis of two cases. 9号染色体近中心倒位的纯合性。产前诊断2例。

Annales de genetique Pub Date : 1997-01-01

P D Cotter, A Babu, L D McCurdy, M Caggana, J P Willner, R J Desnick

{"title":"Homozygosity for pericentric inversions of chromosome 9. Prenatal diagnosis of two cases.","authors":"P D Cotter, A Babu, L D McCurdy, M Caggana, J P Willner, R J Desnick","doi":"","DOIUrl":"","url":null,"abstract":"The finding of homozygosity for a pericentric inversion of chromosome 9 [inv(9)] is rare, and previously has not been reported at prenatal diagnosis. We describe two unrelated cases of homozygosity for inv(9) identified in amniocytes. In each case, both parents were heterozygotes for the inv(9); 46,XX,inv(9)(p11q13) and 46,XY,inv(9) (p11q13). Case 1 resulted in a normal term infant who at age 5 years was phenotypically and developmentally normal. Case 2 was referred for severe intrauterine growth retardation (IUGR) and oligohydramnios, and subsequently expired in utero. Even though inv(9) is a normal chromosome variant with a frequency of 1 to 3% in the general population, the finding of homozygosity for inv(9) and IUGR in this fetus suggested the possibility of uniparental disomy (UPD). Molecular studies confirmed the presence of both parental inv(9) chromosomes, excluding the possibility of chromosome 9 UPD as the cause of IUGR in this fetus. Presumably, inv(9) homozygosity results from the high frequency of inv(9) heterozygosity, and is a normal variant. However, until the effects of UPD for chromosome 9 are established, parental karyo types and, where appropriate, molecular studies should be performed to exclude UPD. In addition, more reports of inv(9) homozygosity detected prenatally are needed to assess its frequency and outcome.","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"40 4","pages":"222-6"},"PeriodicalIF":0.0,"publicationDate":"1997-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20449568","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: 0

Trisomy 18 mosaicism in a mildly retarded boy with postnatal overgrowth. 轻度智障男孩的18三体嵌合现象。

Annales de genetique Pub Date : 1997-01-01

G Plessis, M Le Treust, F Lemaire, T Maugard, D Cau

引用次数: 0

Prevalence of neural tube defects in northeastern France, 1979-1994. Impact of prenatal diagnosis. 1979-1994年法国东北部神经管缺陷的患病率。产前诊断的影响。

Annales de genetique Pub Date : 1997-01-01

Y Alembik, B Dott, M P Roth, C Stoll

引用次数: 0

Floating Harbor syndrome. Case report and further syndrome delineation. 浮港综合症。病例报告和进一步的综合征描述。

Annales de genetique Pub Date : 1997-01-01

A T Midro, B Olchowik, M Rogowska, E Hubert, E Hassman-Poznańska, A Papasz, S Szulc, A Wiśniewski