Annales de genetique最新文献_第3页

Parental origin and meiotic stage of non-disjunction in 139 cases of trisomy 21. 139例21三体不分离的亲本来源和减数分裂期。

Annales de genetique Pub Date : 1999-01-01

F Ballesta, R Queralt, D Gómez, E Solsona, M Guitart, M Ezquerra, J Moreno, R Oliva

引用次数: 0

[Promiscuous genes and chromosomal rearrangements of hematopoietic malignancies]. [混杂基因和造血恶性肿瘤的染色体重排]。

Annales de genetique Pub Date : 1999-01-01

R Berger

引用次数: 0

Biparental expression of IGFBP1 and IGFBP3 renders their involvement in the etiology of Silver-Russell syndrome unlikely. IGFBP1和IGFBP3的双代表达使得它们不太可能参与银罗素综合征的病因学。

Annales de genetique Pub Date : 1999-01-01

K Eggermann, H A Wollmann, G Binder, P Kaiser, M B Ranke, T Eggermann

{"title":"Biparental expression of IGFBP1 and IGFBP3 renders their involvement in the etiology of Silver-Russell syndrome unlikely.","authors":"K Eggermann, H A Wollmann, G Binder, P Kaiser, M B Ranke, T Eggermann","doi":"","DOIUrl":"","url":null,"abstract":"Maternal uniparental disomy (UPD) of chromosome 7 has recently been reported in about 10% of Silver-Russell (SRS) patients. It can therefore be concluded that at least one gene on chromosome 7 is imprinted and mutations in this gene/these genes might contribute to the phenotype of the disease. Two genes which are involved in growth and localised in 7p12-13 are the insulin-like growth factor binding proteins 1 and 3 (IGFBP1; IGFBP3). Comparison to the mouse genome shows that the syntenic region on mouse chromosome 11 is imprinted, UPD of this region leads to deviations in growth in mice. In the present study we investigated whether the genes for IGFBP1 and IGFBP3 might be involved in the etiology of SRS: after exclusion of SRS specific mutations we could demonstrate biparental expression of both genes in lymphocytes of an SRS patient without UPD7 as well as expression in a patient with maternal UPD7. Our results as well as those from other groups show biparental expression of IGFBP1 in fetal tissues and expression of IGFBP3 in nearly every tissue during puberty and adult life. Thus, no evidence is given for an involvement of the two genes in SRS.","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"42 2","pages":"117-21"},"PeriodicalIF":0.0,"publicationDate":"1999-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21300033","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

Cri du chat and Turner syndrome features in a newborn girl with an unbalanced 45,X,psu dic(5;X)(p15.2;p22.1) karyotype: FISH and replication banding studies. Cri du chat和Turner综合征新生儿核型不平衡45,x,psu dic(5;X)(p15.2;p22.1)的特征:FISH和复制带带研究

Annales de genetique Pub Date : 1999-01-01

K S Reddy, D L Smith, C S Ball

引用次数: 0

Schinzel-Giedion syndrome with severe deafness and neurodegenerative process. 伴有严重耳聋和神经退行性进展的Schinzel-Giedion综合征。

Annales de genetique Pub Date : 1999-01-01

Y Alembik, D Christmann, A de Saint Martin, M Eliot, H Dollfus, F Pauly, C Stoll

引用次数: 0

Parental consanguinity as a cause for increased incidence of births defects in a study of 238,942 consecutive births. 在一项对238,942个连续出生的孩子进行的研究中，父母的血缘关系是导致出生缺陷发生率增加的原因。

Annales de genetique Pub Date : 1999-01-01

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

{"title":"Parental consanguinity as a cause for increased incidence of births defects in a study of 238,942 consecutive births.","authors":"C Stoll, Y Alembik, M P Roth, B Dott","doi":"","DOIUrl":"","url":null,"abstract":"The risk for birth defects in the offspring of first-cousin matings has been estimated to increase sharply compared to non consanguineous marriages. As a general decline in the frequency of consanguineous marriages was observed in this century, one wonders whether consanguinity is still a factor in the appearance of birth defects in developed countries. Based on our registry of congenital anomalies we tried to answer to this question. In the population studied in North-Eastern France a consanguineous mating was known in 1.21% of the cases with congenital anomalies, vs. 0.27% in controls, (p < 0.001). The frequency of the malformations recorded paralleled the degree of consanguinity: out of 89 malformed children, 51 were seen in first-cousins mating (10.3 times more frequent than in offspring of non consanguineous couples), 17 in second-cousins marriages and 18 in more distant relatives mating. Three were uncle-niece marriage. Excluding known mendelian conditions these numbers were 73, 36, 17 and 17 respectively and the corresponding relative risk were 3.68, 3.01, 3.41 and 4.89 respectively. Therefore there is a negative dose-response effect between level of inbreeding and risk of congenital malformations. Consanguineous mothers were more often pregnant than non consanguineous mothers (p < 0.01) and they had more stillbirths than non consanguineous mothers. These results show that consanguinity is still a factor of birth defects and they must be taken into account for genetic counseling of inbred marriages, in developed countries.","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"42 3","pages":"133-9"},"PeriodicalIF":0.0,"publicationDate":"1999-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21388313","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

A novel and very peculiar HincII polymorphism in the 5' region of the human neurofibromatosis type 1 (NF1) gene. 在人类1型神经纤维瘤病(NF1)基因的5'区发现了一种新颖且非常特殊的HincII多态性。

Annales de genetique Pub Date : 1999-01-01

L J Fang, J Feingold, B Lemieux, J P Thirion

引用次数: 0

Congenital anomalies associated with congenital hypothyroidism. 先天性异常与先天性甲状腺功能减退。

Annales de genetique Pub Date : 1999-01-01

C Stoll, B Dott, Y Alembik, C Koehl

引用次数: 0

Cerebellar dysgenesis and mental retardation associated with a complex chromosome rearrangement. 小脑发育不良和智力迟钝与复杂的染色体重排有关。

Annales de genetique Pub Date : 1999-01-01

E Maserati, A Verri, L Seghezzi, R Tupler, A Federico, L Tiepolo, P Maraschio