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[Treatment of the tall stature of Marfan disease with a delayed-action analog of somatostatin (SMS 201-995)]. [生长抑素延迟作用类似物治疗马凡氏病的研究[SMS 201-995]。
Journal de genetique humaine Pub Date : 1988-06-01
P Rochiccioli, M T Tauber
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引用次数: 0
[Variable expressiveness of behavior in patients with Recklinghausen's disease after genetic counseling]. [遗传咨询后雷克林豪森氏病患者行为表达的变化]。
Journal de genetique humaine Pub Date : 1988-06-01
S Manouvrier-Hanu, M F Vandevelde-Staquet, J P Farriaux
{"title":"[Variable expressiveness of behavior in patients with Recklinghausen's disease after genetic counseling].","authors":"S Manouvrier-Hanu,&nbsp;M F Vandevelde-Staquet,&nbsp;J P Farriaux","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Couple or individual reaction after genetic counselling in case of Recklinghausen disease seams us to be very different according to the patients and for a patient according to the moment of counseling. We illustrate this observations with two characteristic examples.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 3","pages":"177-9"},"PeriodicalIF":0.0,"publicationDate":"1988-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14267744","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
[Spermatozoa karyotyping and meiotic segregation: a study of 4 reciprocal translocations]. 精子核型和减数分裂分离:4个互易位的研究。
Journal de genetique humaine Pub Date : 1988-01-01
F Pellestor, B Sele, P Jalbert
{"title":"[Spermatozoa karyotyping and meiotic segregation: a study of 4 reciprocal translocations].","authors":"F Pellestor,&nbsp;B Sele,&nbsp;P Jalbert","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Sperm cytogenetics was carried out using technique of in vitro heterospecific human-hamster fertilization. Sperm of 4 men heterozygous from 4 reciprocal translocations (t(4; 17), t(5; 13), t(6; 7) and t(9; 18] was studied. Segregations were various but a majority of unbalanced complements resulting from adjacent 1 segregations was observed. This prevalence was stronger when the pachytene diagram predisposed the translocation to this mode of imbalance at term.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 1-2","pages":"103-6"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14505918","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
[Chromosome translocations: study of 232 cases originating from 144 families]. 染色体易位:来自144个家族的232例病例的研究。
Journal de genetique humaine Pub Date : 1988-01-01
Y Gillerot, L Koulischer, E Jauniaux
{"title":"[Chromosome translocations: study of 232 cases originating from 144 families].","authors":"Y Gillerot,&nbsp;L Koulischer,&nbsp;E Jauniaux","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Between 1974 and 1987, 232 translocation carriers have been detected in our Center; they belong to 144 different families. Indications for chromosome analysis were the following: familial studies in relation with a patient suggesting a chromosome anomaly (25.4%); mental retardation with or without malformations (24.6%); 2 or more spontaneous abortions (17.2%); infertility problems, mainly male (16.4%); genetic counseling for a non-chromosomal disease (9.5%); prenatal diagnosis in risk pregnancies (6.9%). The chromosome anomalies detected were the following; balanced Robertsonian fusions (114 cases = 49.1%); balanced translocations (74 cases = 31.9%); unbalanced translocations, Robertsonian fusions included (44 cases = 19%). Two groups may be distinguished: the first one confirms data already known, such as high frequency of balanced translocations in couples with multiple abortions, or in infertile males. The second group on the contrary shows more unusual observations: 4 cases of standard trisomy 21 born to young parents carriers of a balanced translocation not involving chromosome 21; 5 cases of trisomy 13 with 46 chromosomes and a Robertsonian fusion, born to parents carriers of a t(13q; Dq) (twice the mother and thrice the father); 14 cases of apparently balanced translocations, however with an abnormal phenotype; and finally 22 cases of balanced translocations incidentally detected during the course of investigations in patients with a genetic problem generally not associated with a chromosome defect.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 1-2","pages":"45-57"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14102145","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
[Marfan disease]. (马凡氏症)。
Journal de genetique humaine Pub Date : 1988-01-01 DOI: 10.1007/springerreference_41782
M. Briard, M. Chauvet, J. Kaplan
{"title":"[Marfan disease].","authors":"M. Briard, M. Chauvet, J. Kaplan","doi":"10.1007/springerreference_41782","DOIUrl":"https://doi.org/10.1007/springerreference_41782","url":null,"abstract":"","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 3 1","pages":"239-45"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"52971966","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
[Balanced chromosome abnormalities with abnormal phenotype]. 【平衡染色体异常伴异常表型】。
Journal de genetique humaine Pub Date : 1988-01-01
J P Fryns
{"title":"[Balanced chromosome abnormalities with abnormal phenotype].","authors":"J P Fryns","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>In this report we summarized our experience (1970-1986) on autosomal reciprocal translocations with particular interest towards the possible excess of mental retardation and congenital malformations in carriers of apparently balanced chromosomal rearrangements. The present data confirm the previous findings that the association of MR/MCA and apparently balanced autosomal chromosomal rearrangements is much higher than expected by chance.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 1-2","pages":"33-6"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14504974","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
[Genetic counseling in reciprocal translocations]. [互惠易位的遗传咨询]。
Journal de genetique humaine Pub Date : 1988-01-01
P Jalbert
{"title":"[Genetic counseling in reciprocal translocations].","authors":"P Jalbert","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Segregation modes of human reciprocal translocations are briefly described. Risk figures and mode of imbalance at term differ greatly from one translocation to another. The causes of these variations are analysed and a genetic counselling proposed for each case.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 1-2","pages":"3-14"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14505922","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
[Major malformation syndrome and apparently balanced chromosomal abnormality: holoprosencephaly and 5p; 12q translocation]. 【重大畸形综合征和明显平衡染色体异常:前脑畸形和5p;12问易位]。
Journal de genetique humaine Pub Date : 1988-01-01
J Cousin, C Creusy, M F Croquette, G Vittu
{"title":"[Major malformation syndrome and apparently balanced chromosomal abnormality: holoprosencephaly and 5p; 12q translocation].","authors":"J Cousin,&nbsp;C Creusy,&nbsp;M F Croquette,&nbsp;G Vittu","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Observation of holoprosencephaly associated to chromosomic aberration (balanced translocation 5p; 12q); genetic council may be difficult in case of familial translocation.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 1-2","pages":"83-8"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14417720","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
[Chromosome X-linked mental retardation and marfanoid syndrome]. [染色体x连锁智力低下和类马氏综合征]。
Journal de genetique humaine Pub Date : 1988-01-01
J P Fryns, M Buttiens, H van den Berghe
{"title":"[Chromosome X-linked mental retardation and marfanoid syndrome].","authors":"J P Fryns,&nbsp;M Buttiens,&nbsp;H van den Berghe","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>In the present paper we report two pairs of slightly to moderately mentally retarded brothers with Marfanoid habitus and similar craniofacial changes. They had a long and narrow face, small mandible, high-arched palate and hypernasal voice, as previously reported by Lujan et al. (1984) in 4 mentally retarded males of a large kindred. The present data suggest the existence of a specific type of X-linked mental retardation with Marfanoid habitus.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 1-2","pages":"123-8"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14505920","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
[Balanced chromosome rearrangements with abnormal phenotype]. [异常表型的平衡染色体重排]。
Journal de genetique humaine Pub Date : 1988-01-01
N Philip, M G Mattei, M C Pellissier, J F Mattei, F Giraud
{"title":"[Balanced chromosome rearrangements with abnormal phenotype].","authors":"N Philip,&nbsp;M G Mattei,&nbsp;M C Pellissier,&nbsp;J F Mattei,&nbsp;F Giraud","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>27 cases in which apparent balanced chromosomal rearrangements (reciprocal and translocations and pericentric inversions) are associated with phenotypic abnormalities are reported and compared with the previous published cases. Almost all patients display mental retardation and a non specific dysmorphism. Genetic counseling is different whether the abnormality is inherited or de novo. When an unexpected structural rearrangements is found in fetal cells, the attitude depends on the results of the parent's chromosomal study.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 1-2","pages":"37-43"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14504975","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
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