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  1. Article: Collecting Human Spermatozoa onto Filters for FISH

    Siffroi, Jean Pierre / Le Bourhis, Corine / Dadoune, Jean Pierre

    Acta Cytologica

    2011  Volume 46, Issue 6, Page(s) 1123–1128

    Institution From the Department of Histology, Biology of Reproduction and Cytogenetics, Tenon Hospital, Paris, France
    Language English
    Publishing date 2011-03-09
    Publisher S. Karger AG
    Publishing place Basel, Switzerland
    Document type Article
    Note Molecular Techniques
    ZDB-ID 80003-x
    ISSN 1938-2650 ; 0001-5547
    ISSN (online) 1938-2650
    ISSN 0001-5547
    DOI 10.1159/000327118
    Database Karger publisher's database

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  2. Article: Collecting human spermatozoa onto filters for FISH. Application to the study of extreme oligozoospermia.

    Siffroi, Jean Pierre / Le Bourhis, Corine / Dadoune, Jean Pierre

    Acta cytologica

    2002  Volume 46, Issue 6, Page(s) 1123–1128

    Abstract: Objective: To describe a simple method of fluorescence in situ hybridization (FISH) performed on germ cells collected on filters that allows the study of aneuploid sperm frequency in cases of extreme oligozoospermia.: Study design: The aneuploidy ... ...

    Abstract Objective: To describe a simple method of fluorescence in situ hybridization (FISH) performed on germ cells collected on filters that allows the study of aneuploid sperm frequency in cases of extreme oligozoospermia.
    Study design: The aneuploidy rates for chromosomes X, Y and 18 were analyzed in three groups to test the reliability of the filtration-FISH procedure when compared to controls and to evaluate the frequency of aneuploid spermatozoa in five oligospermic men.
    Results: Filtration of semen samples before FISH does not modify the basal rate of aneuploidy even after various sperm dilutions. In oligospermic men, the frequency of gonosomal aneuploidies is significantly increased.
    Conclusion: The filtration-FISH technique is a powerful method of analyzing chromosomal abnormalities in sperm nuclei in men with extreme oligozoospermia.
    MeSH term(s) Cell Nucleus/pathology ; Cell Separation/methods ; Chromosome Aberrations ; Humans ; In Situ Hybridization, Fluorescence/methods ; Male ; Oligospermia/genetics ; Oligospermia/pathology ; Spermatozoa/pathology
    Language English
    Publishing date 2002-11
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80003-x
    ISSN 1938-2650 ; 0001-5547
    ISSN (online) 1938-2650
    ISSN 0001-5547
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Unexpected Inherited Chromosomal Translocation during Prenatal Diagnosis for Maternal Age: Risk for a Nondetectable Karyotype Imbalance in Offspring

    Siffroi, Jean-Pierre / Heim, Nazbanou / Benzacken, Brigitte / Franco, Jean-Claude / Le Bourhis, Corine

    Fetal Diagnosis and Therapy

    1998  Volume 13, Issue 5, Page(s) 271–275

    Abstract: An unexpected t(1;19) translocation is described in a fetus. Inherited from the mother, this translocation was found during the course of a normal prenatal diagnosis made for maternal age. The very short length of chromosomal translocated segments and ... ...

    Institution Laboratoire d’Histologie, Biologie de la Reproduction et Cytogénétique et Service de Gynécologie-Obstétrique, Hôpital Tenon, Paris Laboratoire d’Histologie, Embryologie, Cytogénétique et Biologie de la Reproduction, Hôpital Jean-Verdier, Bondy, France
    Abstract An unexpected t(1;19) translocation is described in a fetus. Inherited from the mother, this translocation was found during the course of a normal prenatal diagnosis made for maternal age. The very short length of chromosomal translocated segments and their labelling pattern made high-resolution cytogenetic methods and fluorescence in situ hybridization techniques necessary for the correct identification of this karyotype rearrangement, both in mother and fetus. Different modes of meiotic segregation, leading to potential erroneous prenatal diagnoses, are discussed.
    Keywords Cryptic chromosomal translocation ; Fluorescence in situ hybridization ; Meiosis ; Prenatal diagnosis ; Genetic counselling ; Refsum’s disease
    Language English
    Publishing date 1998-11-18
    Publisher S. Karger AG
    Publishing place Basel, Switzerland
    Document type Article
    Note Paper
    ZDB-ID 1066460-9
    ISSN 1421-9964 ; 1015-3837
    ISSN (online) 1421-9964
    ISSN 1015-3837
    DOI 10.1159/000020853
    Database Karger publisher's database

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  4. Article: Usefulness of Fluorescence in situ Hybridization for the Diagnosis of Turner Mosaic Fetuses with Small Ring X Chromosomes

    Siffroi, Jean Pierre / Dupuy, Olivier / Joye, Nicole / Le Bourhis, Corine / Benzacken, Brigitte / Portnoi, Marie-France / Berkane, Nadia / Franco, Jean Claude / Studer, Christophe / Carbonne, Bruno / Gonzales, Marie / Bucourt, Martine / Uzan, Serge / Uzan, Michèle / Milliez, Jacques / Wolf, Jean Philippe / Taillemite, Jean-Louis / Dadoune, Jean Pierre

    Fetal Diagnosis and Therapy

    2000  Volume 15, Issue 4, Page(s) 229–233

    Abstract: Objective: To emphasize the usefulness of fluorescence in situ hybridization (FISH) techniques on uncultured amniocytes for the diagnosis of abnormal mosaic karyotypes. Methods: In the course of three prenatal diagnoses, specific fluorescent probes, ... ...

    Institution Service d’Histologie, Biologie de la Reproduction et Cytogénétique, Hôpital Tenon, Paris Service d’Histologie, Embryologie, Cytogénétique et Biologie de la Reproduction, Hôpital Jean-Verdier, Bondy Service d’Embryologie Pathologique et de Cytogénétique, Hôpital Saint-Antoine, Paris Service de Gynécologie Obstétrique et Médecine de la Reproduction, Hôpital Tenon, Paris Service de Gynécologie Obstétrique, Hôpital Jean-Verdier, Bondy Service de Gynécologie Obstétrique, Hôpital Saint-Antoine, Paris Service d’Anatomo-Pathologie, Hôpital Jean-Verdier, Bondy Centre Pluridisciplinaire de Diagnostic Prénatal de l’UFR Saint-Antoine pour l’Est Parisien, Paris, France
    Abstract Objective: To emphasize the usefulness of fluorescence in situ hybridization (FISH) techniques on uncultured amniocytes for the diagnosis of abnormal mosaic karyotypes. Methods: In the course of three prenatal diagnoses, specific fluorescent probes, coding, respectively, for chromosomes X, Y, 18, 13, and 21, were applied on amniocyte preparations directly after amniocentesis. At least 50 nuclei were counted in each case. Parallel to the FISH procedure, cell cultures were set up in order to obtain karyotypes. FISH and cytogenetic results were then compared. Results: In each case, FISH showed an abnormal mosaic chromosomal constitution, 45,X/46,XX, which was related to the existence of tiny ring X chromosomes in karyotypes. Conclusion: Because very small ring X chromosomes can escape identification when standard cytogenetic techniques are used alone, we show that misdiagnosis can be avoided when FISH is performed beforehand.
    Keywords Ring X chromosome ; Fluorescence in situ hybridization ; Prenatal diagnosis ; Turner’s syndrome ; Chromosomal mosaicism ; XIST gene
    Language English
    Publishing date 2000-06-22
    Publisher S. Karger AG
    Publishing place Basel, Switzerland
    Document type Article
    Note Paper
    ZDB-ID 1066460-9
    ISSN 1421-9964 ; 1015-3837
    ISSN (online) 1421-9964
    ISSN 1015-3837
    DOI 10.1159/000021012
    Database Karger publisher's database

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