PubMed · 12229111
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Veli-Matti Ulander, Risto Kaaja, Maija Tulppala. 2002. [Recurrent miscarriage].. https://pubmed.ncbi.nlm.nih.gov/12229111/
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The detection of a fragile site in a patient often causes concerns due to its potential significance and the necessity to be followed-up properly with genetic counseling. Here we present a new heritable fragile site at 15q13, which was spontaneously expressed at a high frequency in lymphocytes culture of both members of a nonconsanguineous couple with recurrent abortions. The fragile site was not detected in the parents of the female, while the male had inherited it from his father. The fragile site was seen > or =85% of cells in all the carriers. To the best of our knowledge, the presence of this fragile site is being described for the first time under different culture conditions. While it looks like the fragile site is harmless in all carriers, having heterozygosity in the couple may lead to homozygous offspring that could result in fetal loss.
Chromosome analysis in a couple referred because of two spontaneous abortions showed a normal 46,XX karyotype in the 28-year-old female and an aberrant Y chromosome with an enlarged short arm in the 30-year-old male. Subsequent chromosome analysis showed that his 33-year-old brother was carrier of the same Y chromosome aberration. Further characterization of the aberrant Y chromosome with FISH using probes specific for chromosome bands Yp11.32, Yq11.2, the centromere and the subtelomeric region of the p-arm of the Y chromosome showed that chromosome band Yq11.2 was duplicated and inserted in the p-arm of the Y chromosome. Combining the results of the analysis of GTG-banded chromosomes and of the FISH analysis we conclude that both patients have a 46,X,ins dup(Y)(pter --> p11.23::q12 --> q11.1::p11.23 -->) karyotype. The clinical and cytogenetical findings are reported and discussed.
BACKGROUND: Our aim was to assess the strength of the controversial association between thrombophilia and fetal loss, and to examine whether it varies according to the timing or definition of fetal loss. METHODS: We searched Medline and Current Contents for articles published between 1975 and 2002 and their references with terms denoting recurrent fetal and non-recurrent fetal loss combined with various thrombophilic disorders. We included in our meta-analysis case-control, cohort, and cross-sectional studies published in English, the methodological quality of which was rated as moderate or strong. Pooled odds ratios (OR) with 95% CI were generated by random effects models with Cochrane Review Manager software. FINDINGS: We included 31 studies. Factor V Leiden was associated with early (OR 2.01, 95% CI 1.13-3.58) and late (7.83, 2.83-21.67) recurrent fetal loss, and late non-recurrent fetal loss (3.26, 1.82-5.83). Exclusion of women with other pathologies that could explain fetal loss strengthened the association between Factor V Leiden and recurrent fetal loss. Activated protein C resistance was associated with early recurrent fetal loss (3.48, 1.58-7.69), and prothrombin G20210A mutation with early recurrent (2.56, 1.04-.29) and late non-recurrent (2.30, 1.09-4.87) fetal loss. Protein S deficiency was associated with recurrent fetal loss (14.72, 0.99-218.01) and late non-recurrent fetal loss (7.39, 1.28-42.63). Methylenetetrahydrofolate mutation, protein C, and antithrombin deficiencies were not significantly associated with fetal loss. INTERPRETATION: The magnitude of the association between thrombophilia and fetal loss varies, according to type of fetal loss and type of thrombophilia.