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[Various banding simultaneously obtained on the same slides, after treatment by BrdU (author's transl)]. [经BrdU处理后，在同一张载玻片上同时获得多种条带（作者翻译）]。
Humangenetik Pub Date : 1975-12-23 DOI: 10.1007/BF00275142
Dutrillaux
{"title":"[Various banding simultaneously obtained on the same slides, after treatment by BrdU (author's transl)].","authors":"Dutrillaux","doi":"10.1007/BF00275142","DOIUrl":"10.1007/BF00275142","url":null,"abstract":"<p><p>A treatment by BrdU during 24 hrs, followed by a treatment by thymidine, during 30 hrs, induces in the same preparations, many types of chromosome banding R-, Q-, H-bands, and several types of asymmetry. This indicates that the BrdU is not incorporated only in some parts of the karyotype, but, on the contrary, any where, and then induces different banding according to the site of its incorporation. Above all, the type of band is determined by the period of the phase S in which the cell was at the time of the treatment by BrdU. Thus the coexistence of many types of banding may be explained here by the great variability of the cellular cycle of the lymphocytes in culture.</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 4","pages":"297-306"},"PeriodicalIF":0.0,"publicationDate":"1975-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11278343","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 subtelocentric chromosome 9 in a dysplastic 18-year-old boy with dissociated mental development. 发育不良的18岁男孩与分离性智力发育的亚远心9号染色体。
Humangenetik Pub Date : 1975-12-23 DOI: 10.1007/BF00275140
I Hansmann, J Keutel
{"title":"A subtelocentric chromosome 9 in a dysplastic 18-year-old boy with dissociated mental development.","authors":"I Hansmann, J Keutel","doi":"10.1007/BF00275140","DOIUrl":"10.1007/BF00275140","url":null,"abstract":"<p><p>A subtelocentric C-group chromosome was identified as inv(9) (p24q12) in an 18-year-old young man who shows few dysplastic signs and who suffers from dissociated mental development. Pericentric inversions producing an almost metacentri No. 9 have been reported in several studies. The frequency of which proved to be high. There is an apparent lack, however, of inverted acro- or subtelocentric No. 9 reported in the literature. This obvious difference in the break points on chromosome 9 is most likely due to 1. hot-spots for chromosome breakage i.e. highly susceptible regions such as the euchromatic-heterochromatic junctions. 2. a higher degree of elimination against such acro- or subtelocentric chromosomes from one generation to the other.</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 4","pages":"287-9"},"PeriodicalIF":0.0,"publicationDate":"1975-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12395802","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
Frequency of inborn errors of metabolism, especially PKU, in some representative newborn screening centers around the world: a collaborative study. 世界上一些有代表性的新生儿筛查中心的先天性代谢错误，特别是PKU的频率:一项合作研究
Humangenetik Pub Date : 1975-12-23
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引用次数: 0
Contribution to the genetics of serum beta-lipoproteins in man. VIII. Linkage of the Ag h/i locus with the Ag x/y, Ag a1/d, Ag c/g, and Ag t/z loci. 对人类血清β -脂蛋白遗传学的贡献。8Ag h/i位点与Ag x/y、Ag a1/d、Ag c/g和Ag t/z位点的连锁。
Humangenetik Pub Date : 1975-12-23 DOI: 10.1007/BF00275148
G Morganti, P B Beolchini, R Bütler, E Bütler-Brunner, A Vierucci
{"title":"Contribution to the genetics of serum beta-lipoproteins in man. VIII. Linkage of the Ag h/i locus with the Ag x/y, Ag a1/d, Ag c/g, and Ag t/z loci.","authors":"G Morganti,&nbsp;P B Beolchini,&nbsp;R Bütler,&nbsp;E Bütler-Brunner,&nbsp;A Vierucci","doi":"10.1007/BF00275148","DOIUrl":"https://doi.org/10.1007/BF00275148","url":null,"abstract":"","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 4","pages":"341-2"},"PeriodicalIF":0.0,"publicationDate":"1975-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00275148","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11393484","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
Climate associated variations in the human serum albumin level. 人类血清白蛋白水平的气候相关变化。
Humangenetik Pub Date : 1975-12-23 DOI: 10.1007/BF00275146
H Walter, B Schöbel
{"title":"Climate associated variations in the human serum albumin level.","authors":"H Walter, B Schöbel","doi":"10.1007/BF00275146","DOIUrl":"10.1007/BF00275146","url":null,"abstract":"<p><p>Quantitative determinations of the human serum albumin level showed significantly higher values in tropical (Negroes 46.98 mg/ml, Indians 54.30 mg/ml) than in non-tropical populations (Germans 44.41 mg/ml). These observations are in agreement with those of several other authors. It is assumed that these variations in the serum albumin level are related to climate, and that they may indicate some biological advantage of higher albumin levels under the climatic conditions of tropical biotops. This hypothesis is discussed considering several aspects.</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 4","pages":"331-5"},"PeriodicalIF":0.0,"publicationDate":"1975-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12395809","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 9p due to paternal translocation, t(9;13) (q13;q12). 父亲易位导致的9p三体，t(9;13) (q13;q12)。
Humangenetik Pub Date : 1975-12-23 DOI: 10.1007/BF00275143
A Schinzel, K Hayashi, W Schmid
{"title":"Trisomy 9p due to paternal translocation, t(9;13) (q13;q12).","authors":"A Schinzel,&nbsp;K Hayashi,&nbsp;W Schmid","doi":"10.1007/BF00275143","DOIUrl":"https://doi.org/10.1007/BF00275143","url":null,"abstract":"<p><p>A 16-year-old girl with trisomy 9p is described. She had a short stature, severe mental retardation and the following abnormal clinical findings: peculiar face with hypertelorism, downward slanting palpebral fissures, convergent strabismus, a bulbous nose with broad and prominent bridge, short upper lip, narrow, high-arched palate; short neck with low hairline; severe kyphoscoliosis and a congenital clubfoot deformity; hypoplasia and dysplasia of several phalanges of the fingers and toes and some nails, a delay by about 6 years in bone age, and remarkable dermatoglyphic patterns. The father and 3 other family members carried a balanced translocation between chromosomes 9 and 13, t(9;13)(q13;q12).</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 4","pages":"307-16"},"PeriodicalIF":0.0,"publicationDate":"1975-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00275143","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12395806","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: 9
Sister chromatid exchanges and chromatid interchanges in bloom's syndrome. 姐妹染色单体交换和布鲁姆综合征中的染色单体交换。
Humangenetik Pub Date : 1975-12-23 DOI: 10.1007/BF00275144
T M Schroeder
{"title":"Sister chromatid exchanges and chromatid interchanges in bloom's syndrome.","authors":"T M Schroeder","doi":"10.1007/BF00275144","DOIUrl":"https://doi.org/10.1007/BF00275144","url":null,"abstract":"<p><p>A comparison is made between the incidences of sister chromatid exchanges (SCE) per chromosome and group of chromosomes and breakage, visible at metaphase like open gaps, breaks, and breaks involved in chromatid interchange formation (CI) in Bloom's syndrome. It can be shown that the two levels of breakage SCE and CI are not correlated as to the locations. The discussion deals with possible interpretations of preferential breakage and reunion at certain homologous chromosomes and the difficulties today to understand SCEs.</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 4","pages":"317-23"},"PeriodicalIF":0.0,"publicationDate":"1975-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00275144","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12395807","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: 10
A technique for in situ karyotyping of primary amniotic fluid cell cultures. 原代羊水细胞培养的原位核型分析技术。
Humangenetik Pub Date : 1975-12-23 DOI: 10.1007/BF00275145
W Schmid
{"title":"A technique for in situ karyotyping of primary amniotic fluid cell cultures.","authors":"W Schmid","doi":"10.1007/BF00275145","DOIUrl":"https://doi.org/10.1007/BF00275145","url":null,"abstract":"<p><p>A time proven technique is described for growing amniotic fluid cell cultures on cover glasses in Leighton tubes and for processing the mitotic cells in situ. Karyotyping the clones in situ eliminates most of the problems caused by somatic chromosome mutations in vitro and by maternal cell growth.</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 4","pages":"325-30"},"PeriodicalIF":0.0,"publicationDate":"1975-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00275145","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12395808","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: 12
Translocation (13q21q) 易位（13q21q）
Humangenetik Pub Date : 1975-12-01 DOI: 10.1007/BF00278422
M. Mikkelsen, A. Hansson, P. Jacobsen, N. Hobolth
{"title":"Translocation (13q21q)","authors":"M. Mikkelsen, A. Hansson, P. Jacobsen, N. Hobolth","doi":"10.1007/BF00278422","DOIUrl":"https://doi.org/10.1007/BF00278422","url":null,"abstract":"","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"2021 1","pages":"303-307"},"PeriodicalIF":0.0,"publicationDate":"1975-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00278422","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51183482","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: 2
Chromosomale Instabilität bei Homo- und Heterozygotie für mikrocephalia vera 性伴侣是双性恋
Humangenetik Pub Date : 1975-12-01 DOI: 10.1007/BF00285382
W. Vormittag, E. Kunze-Mühl, M. Weninger
{"title":"Chromosomale Instabilität bei Homo- und Heterozygotie für mikrocephalia vera","authors":"W. Vormittag, E. Kunze-Mühl, M. Weninger","doi":"10.1007/BF00285382","DOIUrl":"https://doi.org/10.1007/BF00285382","url":null,"abstract":"","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"26 1","pages":"307-314"},"PeriodicalIF":0.0,"publicationDate":"1975-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00285382","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51200195","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
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