title: [The results of cytogenetic investigations in 107 couples with recurrent spontaneous abortions from Pomerania-Kujawy region of Poland].
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.
authors.affiliation: Katedra i Zaklad Genetyki Klinicznej, Akademii Medycznej, Wrocławiu.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Pasińska
authors.forename: Olga
authors.initials: O
authors.lastname: Haus
authors.forename: Rafał
authors.initials: R
authors.lastname: Adamczak
authors.forename: Barbara
authors.initials: B
authors.lastname: Mucha
authors.forename: Wiesław
authors.initials: W
authors.lastname: Szymański
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Ferenc
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Ludwikowski
authors.forename: Ewa
authors.initials: E
authors.lastname: Duszeńko
mesh_terms: D000022:Abortion, Spontaneous / Q000453:epidemiology* / Q000235:genetics*; D000328:Adult; D002391:Catchment Area, Health; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D003582:Cytogenetics / Q000379:methods*; D005191:Family Characteristics; D005260:Female; D006801:Humans; D015994:Incidence; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D011044:Poland / Q000453:epidemiology; D015995:Prevalence; D012008:Recurrence; D014178:Translocation, Genetic / Q000235:genetics; D014314:Trisomy / Q000235:genetics*