共查询到20条相似文献,搜索用时 15 毫秒
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A new case of Robertsonian translocation in cattle 总被引:1,自引:0,他引:1
H M Berland A Sharma E P Cribiu R Darre J Boscher C P Popescu 《The Journal of heredity》1988,79(1):33-36
A new Robertsonian translocation was found in several animals of the Blonde d'Aquitaine breed. The fused chromosome analyzed by G- and R-banding results from the fusion of chromosomes 21 and 27. C-banding suggests that the fused chromosome is dicentric. 相似文献
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A dicentric Robertsonian translocation in a Dexter Cow 总被引:1,自引:0,他引:1
F E Eldridge 《The Journal of heredity》1974,65(6):353-355
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Karyotypes were prepared for ten Rahaji bulls using cultured peripheral blood lymphocytes. C-banded metaphases were prepared to identify the sex chromosomes and possible translocations. Out of the ten bulls, studied one bull had a 2n number of 59 chromosomes and carried a Robertsonian translocation. The possible importance of the Robertsonian translocation in Zebu cattle in Nigeria is discussed. 相似文献
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This is the first report on the Robertsonian 1/29 translocation in the Sykia Chalkidiki cattle breed. The characteristics of this endangered breed are described, and the possibilities of rescuing and exploiting the breed in a zootechnical sense are examined. 相似文献
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A collaborative study on 92 Robertsonian translocations is analysed in relation with the methods of ascertainment, the type of rearrangement and potential imbalance of the anomaly. The results are useful in genetic counselling. 相似文献
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D R Parker 《Mutation research》1974,24(2):149-162
In Drosophila melanogaster, gametes formed by oocytes in which Robertsonian translocations were induced in an immature stage usually show chromosomal imbalance. It is estimated that fewer than 20% of the gametes bearing newly induced Robertsonian translocations “fusing” X and fourth chromosomes are of balanced constitution. In contrast, when the two acrocentric pairs, X and fourth chromosomes, are replaced by an X-4 Robertsonian translocation, treatment of immature oocytes of homozygotes produces some 5–6-fold fewer sex-chromosome trisomics than do females of normal karyotype. In the place of such trisomics (having separate sex chromosomes), there is a much smaller number of compound-X chromosomes formed and a number of compound-fourth chromosomes as well. However, the production of “XO” males is not appreciably smaller in the translocation homozygotes. A number of possible mechanisms to account for this are suggested. The findings are consistent with the expectations of the hypothesis that radiation-induced nondisjunction results from improper conjunctions of heterologues, brought about by chromatid interchange7–12, 16. 相似文献
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A new dicentric Robertsonian translocation is described in a Holstein cow. The translocation appears to have arisen spontaneously from the centric fusion of autosomal acro centrics 14 and 28 which resulted in a diploid chromosome number of 59. Behavioral and phenotypic anomalies of the affected cow are discussed. 相似文献
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A 5-year-old female Walker hound was presented to the Washington State University Veterinary Teaching Hospital as a result of a narrowing of the vulva, which prevented natural breeding. All other physical and clinical findings were normal. Cytogenetic analysis disclosed a chromosome number of 77, with three metacentric chromosomes comprised of two X chromosomes and a Robertsonian translocation of two acrocentric autosomes, chromosomes 21 and 33. Cytogenetic analysis of two full-sister siblings with histories of absence of estrus disclosed one with the same translocation and one with a normal female chromosome constitution. The propositus was artificially inseminated with semen from a karyotypically normal male Walker hound and gave birth to nine live grossly normal pups, six females and three males. Another female pup was stillborn but was grossly normal. Cytogenetic analysis of the live pups disclosed that four (three males and one female) of the nine had the same translocation in all lymphocytes. The remaining five pups (five females) had normal female chromosome constitutions. The litter size was average for this breed. This is a previously unreported Robertsonian translocation in dogs. 相似文献
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S. J. Gross Avirachan T. Tharapel Owen P. Phillips L. P. Shulman Enikö K. Pivnick V. M. Park 《Human genetics》1996,98(3):291-296
We report a patient with mosaicism for two different Robertsonian translocations, both involving chromosome 21. She carries
an unbalanced cell line with an i(21q) and a balanced cell line with a rob(21q22q). She is phenotypically normal but has two
children who inherited the i(21q) and have Down syndrome. We demonstrate that both abnormal chromosomes are dicentric and
that the proband’s 21/21 rearrangement is an isochromosome formed from a maternally derived chromosome 21. We propose a model
in which the i(21q) is the progenitor rearrangement in the proband, which subsequently participated in a nonreciprocal rearrangement
characteristic of a jumping translocation. In addition, we review other cases of constitutional mosaicism involving jumping
translocations.
Received: 4 October 1995 / Revised: 14 February 1996 相似文献
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Demirel G Oguz SS Celik IH Sandal G Uras N Erdeve O Dilmen U 《Genetic counseling (Geneva, Switzerland)》2010,21(3):293-297
A trisomy 13 case with Robertsonian translocation presenting with atypical findings: Trisomy 13 is an autosomal trisomy caused by the presence of an extra copy of chromosome 13. Anomalies associated with this syndrome are severe mental retardation, coloboma, hypotonia, skeletal anomalies, midline anomalies, facial defects, holoprosencephaly, cardiac defects, omphalocele and polydactyly. Here we report a case of trisomy 13 with Robertsonian translocation, 160 day old, presenting with atypical findings like posterior fusion defect of the vertebra, hyperplasia of the right lobe of the liver, dilatation at pelvicalyxial system, scoliosis and complex heart disease including cardiomyopathy. 相似文献
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Roux C Tripogney C Morel F Joanne C Fellmann F Clavequin MC Bresson JL 《Cytogenetic and genome research》2005,111(3-4):291-296
Robertsonian translocations are the most frequent structural chromosomal abnormalities in humans and can affect fertility, with various degrees of sperm alterations in men; or the pregnancy outcome of the carriers. The studies on meiotic segregation of chromosomes in sperm of Robertsonian translocation males find a majority of normal or balanced spermatozoa for the chromosomes related to the translocation (mean 85.42%; range 60-96.60%). Furthermore, recent studies suggest an interchromosomal effect. Studies on spermatozoa from translocation carriers, and in mouse models help the comprehension of the meiotic segregation mechanisms. Results of meiotic segregation analysis in man could be integrated in genetic counselling especially when assisted reproductive technology is required. 相似文献
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Robertsonian translocation between the chromosome Y and 15 总被引:4,自引:0,他引:4
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Robertsonian translocation between the chromosome Y and 15 总被引:3,自引:0,他引:3
Summary The Robertsonian translocation 45,X,t(Y;15q) was detected in four generations of male progeny. The karyotypes were studied by G-, Q-, and C-banding techniques. The chromosome Y involved in this translocation was of a short, nonfluorescent variant. The normal male phenotypes in all three adult translocation carriers (the great grandfather, the grandfather, and the father) support the hypothesis that the locus for the male determining factor is on the short arm of the chromosome Y.
Zusammenfassung Eine Robertsonsche Translokation 45,X,t(Y;15q) wurde in vier Generationen der männlichen Linie entdeckt. Die Karyotypen wurden mittels der G-, R- und C-Banding-Techniken untersucht. Das in diese Translokation verwickelte Y-Chromosom gehörte zu der kurzen, nichtfluorescierenden Variante. Alle Translokationsträger aus vier Generationen hatten einen normalen männlichen Phänotyp. Dadurch wird die Hypothese bestätigt, daß der Locus für den die Männlichkeit bestimmenden Faktor auf dem kurzen Arm des Y-Chromosoms gelegen ist.相似文献