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Chen Hong-yu - One of the best experts on this subject based on the ideXlab platform.

  • STUDY ON THE DISTRIBUTED CHARACTERISTIC OF THE DISTORTION KARYOTYPE OF THE HUMAN Chromosome
    Modern Preventive Medicine, 2009
    Co-Authors: Chen Hong-yu
    Abstract:

    [Objective] To clarify the characteristics of the different types of Chromosome Aberration. [Methods] The peripheral blood was taken to culture the peripheral lymphocyte by cytogeneties method. G-banding and karyotype were assayed under micrope, 50 metaphases were counted, 10 karyotypes were analyzed. [Results] Among 1065 cases of generation consultants, the rate of Chromosome Aberration was 15.7%. After classifying them by Aberration types, the rate of number Aberration was 9.9%, the rate of the structure Aberration was 2.3% and the abnormal rate of the Chromosome polymorphism diversity was 3.5%. After classifying by Chromosome, the rate of the euChromosome Aberration was 11.7%, and the rate of the Sex Chromosome Aberration was 4.0%. [Conclusion] The human euChromosome is easy to have Aberration. The predominant type of the humanity chromosomic Aberration is the number distortion. The structure distortion often occurs in the euChromosome. The primary Chromosome polumorphism is Y-Chromosome and y-Chromosome. Of these three cases of Chromosome balanced transposition are the first reported in the world.

Anders Juul - One of the best experts on this subject based on the ideXlab platform.

  • Therapy of endocrine disease: Testicular function and fertility in men with Klinefelter syndrome: a review
    European journal of endocrinology, 2013
    Co-Authors: Lise Aksglaede, Anders Juul
    Abstract:

    Klinefelter syndrome, 47,XXY (KS), is the most frequent Sex Chromosome Aberration in males, affecting 1 in 660 newborn boys. The syndrome is characterized by testicular destruction with extensive fibrosis and hyalinization of the seminiferous tubules resulting in small testes, hypergonadotropic hypogonadism, and azoospermia in the majority of cases. Until recently, infertility was considered an untreatable condition in KS. However, with the development of new advanced assisted reproductive techniques such as testicular sperm extraction (TESE) combined with ICSI it seems that KS patients should no longer be labelled as infertile. Especially, microdissection (micro)-TESE has proved to be an advantageous procedure for the identification of testicular spermatozoa in KS. The aim of this review was to describe current knowledge on the testicular changes occurring in KS, the associated changes in reproductive hormones and spermatogenesis, and the existing possibilities of biological fatherhood in 47,XXY patients.

Lise Aksglaede - One of the best experts on this subject based on the ideXlab platform.

  • Therapy of endocrine disease: Testicular function and fertility in men with Klinefelter syndrome: a review
    European journal of endocrinology, 2013
    Co-Authors: Lise Aksglaede, Anders Juul
    Abstract:

    Klinefelter syndrome, 47,XXY (KS), is the most frequent Sex Chromosome Aberration in males, affecting 1 in 660 newborn boys. The syndrome is characterized by testicular destruction with extensive fibrosis and hyalinization of the seminiferous tubules resulting in small testes, hypergonadotropic hypogonadism, and azoospermia in the majority of cases. Until recently, infertility was considered an untreatable condition in KS. However, with the development of new advanced assisted reproductive techniques such as testicular sperm extraction (TESE) combined with ICSI it seems that KS patients should no longer be labelled as infertile. Especially, microdissection (micro)-TESE has proved to be an advantageous procedure for the identification of testicular spermatozoa in KS. The aim of this review was to describe current knowledge on the testicular changes occurring in KS, the associated changes in reproductive hormones and spermatogenesis, and the existing possibilities of biological fatherhood in 47,XXY patients.

M. Kuwajima - One of the best experts on this subject based on the ideXlab platform.

  • Genetic diagnosis of Sex Chromosome Aberrations in horses based on parentage test by microsatellite DNA and analysis of X- and Y-linked markers.
    Equine veterinary journal, 2010
    Co-Authors: H. Kakoi, K. Hirota, Hitoshi Gawahara, Masahiko Kurosawa, M. Kuwajima
    Abstract:

    Summary Reasons for performing study: Sex Chromosome Aberrations are often associated with clinical signs that affect equine health and reproduction. However, abnormal manifestation with Sex Chromosome Aberration usually appears at maturity and potential disorders may be suspected infrequently. A reliable survey at an early stage is therefore required. Objectives: To detect and characterise Sex Chromosome Aberrations in newborn foals by the parentage test and analysis using X- and Y-linked markers. Methods: We conducted a genetic diagnosis combined with a parentage test by microsatellite DNA and analysis of X- and Y-linked genetic markers in newborn light-breed foals (n = 17, 471). The minimum incidence of Sex Chromosome Aberration in horses was estimated in the context of available population data. Results: Eighteen cases with Aberrations involving 63,XO, 65,XXY and 65,XXX were found. The XO, XXY (pure 65,XXY and/or mosaics/chimaeras) and XXX were found in 0.15, 0.02 and 0.01% of the population, respectively, based solely on detection of abnormal segregation of a single X Chromosome marker, LEX003. Conclusions and potential relevance: Detection at an early age and understanding of the prevalence of Sex Chromosome Aberrations should assist in the diagnosis and managment of horses kept for breeding. Further, the parental origin of the X Chromosome of each disorder could be proved by the results of genetic analysis, thereby contributing to cytogenetic characterisation.

Claus H Gravholt - One of the best experts on this subject based on the ideXlab platform.