[The results of cytogenetic investigations in 107 couples with recurrent spontaneous abortions from Pomerania-Kujawy region of Poland].

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  • Additional Information
    • Transliterated Title:
      Wyniki badań cytogenetycznych u 107 par z regionu kujawsko-pomorskiego z nawracajacymi poronieniami samoistnymi.
    • Source:
      Publisher: Aluna Publishing Country of Publication: Poland NLM ID: 9705467 Publication Model: Print Cited Medium: Print ISSN: 0043-5147 (Print) Linking ISSN: 00435147 NLM ISO Abbreviation: Wiad Lek Subsets: MEDLINE
    • Publication Information:
      Publication: Konstancin Jeziorna : Aluna Publishing
      Original Publication: Warszawa : Pánstwowy Zakład Wydawnictw Lekarskich, [1960-
    • Subject Terms:
      Family Characteristics*; Abortion, Spontaneous/*epidemiology ; Abortion, Spontaneous/*genetics ; Chromosomes, Human, Pair 10/*genetics ; Chromosomes, Human, Pair 9/*genetics ; Cytogenetics/*methods ; Trisomy/*genetics; Adult ; Catchment Area, Health ; Female ; Humans ; Incidence ; Karyotyping ; Male ; Middle Aged ; Poland/epidemiology ; Prevalence ; Recurrence ; Translocation, Genetic/genetics
    • Abstract:
      About 10-15% of clinically diagnosed pregnancies end by spontaneous abortion. One of the causes of recurrent abortions is the presence of chromosome aberrations in a parent. The paper presents the results of cytogenetic investigations in 107 couples referred to genetic council clinic because of at least 2 spontaneous abortions. Cytogenetic analysis was performed on peripheral blood lymphocytes after standard 72h PHA-stimulated culture. At least 20 GTG- and CBG-banded metaphases were analyzed in each patient. Fluorescence in situ hybridization technique was used as to precisely define cytogenetic results. Chromosome aberrations were found in 7 couples (6.54%), exclusively in women. Numerical aberration (47,XXX) was present in 1 woman, and balanced structural aberrations in 6 (5.61%). In 3 of them balanced translocations were disclosed: t(7; 19)(p13;p13.3), t(8;16)(q24;q22), and t(3;8)(q21;p21), in 2--inversions: inv(2)(p25q31), inv(17)(p12p13.3), and in 1--der(20). Pericentric inversion of chromosome 9 was found in 3 men. The analysis of nongenetic factors showed that neither age, nor congenital anomalies of uterus could be an important factor causing abortions in analyzed couples with aberrations. However, infections and muta- or teratogenic exposure could contribute to loss of pregnancies in some cases. Authors conclude that karyotype analysis should be an integral part of diagnostics in couples with recurrent abortions.
    • Publication Date:
      Date Created: 20060406 Date Completed: 20060706 Latest Revision: 20191210
    • Publication Date:
      20240829
    • Accession Number:
      16594473