Cases reported "Abortion, Habitual"

Filter by keywords:



Filtering documents. Please wait...

1/7. Recurrent triploidy of maternal origin.

    We report the occurrence of triploid preimplantation embryos following in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) in a woman with two previously-identified triploid conceptuses which spontaneously underwent fetal demise at 10 and 23 weeks' gestation. An error in maternal meiosis II is proposed as the most likely cause.
- - - - - - - - - -
ranking = 1
keywords = meiosis
(Clic here for more details about this article)

2/7. A de novo complex chromosomal rearrangement with a translocation 7;9 and 8q insertion in a male carrier with no infertility.

    A de novo complex chromosomal rearrangement (CCR) involving chromosomes 7, 8 and 9 in a male carrier was ascertained through his healthy wife's recurrent spontaneous abortions. Six pregnancies over eight years resulted in four spontaneous abortions and two livebirths who died perinatally due to abnormal vital signs. Cytogenetic analyses utilizing high resolution chromosome banding technique showed a deletion of band in a der(7) chromosome and an extra band inserting at 8q21.2. Another extra band was also observed at the band 9p24, but it could not be karyotypically determined. Fluorescent in-situ hybridization using chromosome 7 and 8 specific microdissected library as probes confirmed the insertion of a segment from the translocated chromosome 7 into a chromosome 8, and additionally revealed a translocation between chromosomes 7 and 9. The karyotype of the CCR carrier was determined as 46,XY,t(7;9)(q22;p24),ins(8;7)(q21.2;q22q32).ish der(9)(wcp7 );ins(8;7)(wcp8 ,wcp7 ). Comparing with previously reported male CCR carriers with our case, we conclude that male CCR carriers may not always present with infertility or subfertility phenotypes. This may suggest that rare transmission of male carriers could result from abnormal chromosomal rearrangements during meiosis and gametogenesis in addition to frequent infertility.
- - - - - - - - - -
ranking = 1
keywords = meiosis
(Clic here for more details about this article)

3/7. Recurrent trisomy 15 in a female carrier of der(15)t(Y;15)(q12;p13).

    We report on a female carrier of der(15) t(Y;15)(q12;p13) who had two pregnancy losses with trisomy 15 and one with tetraploidy. Molecular analysis showed that both non-disjunction events resulting in the trisomy 15 pregnancies occurred in maternal meiosis I. This finding raises the possibility that there may be an increased risk for trisomy 15 in some carriers of unbalanced t(Y;15) which, if followed by trisomic zygote rescue, may lead to uniparental disomy (UPD).
- - - - - - - - - -
ranking = 1
keywords = meiosis
(Clic here for more details about this article)

4/7. A novel family-specific translocation t(2;20)(p24.1;q13.1) associated with recurrent abortions: molecular characterization and segregation analysis in male meiosis.

    In the present study, we present a novel reciprocal translocation t(2;20)(p24.1;q13.1) and its segregation in a three generation family. The rate of miscarriages (50%) in pregnancies from male translocation carriers could be explained by unbalanced translocation-bearing spermatozoa found with a frequency of approximately 55% in the entire sperm population of a t(2;20)(p24.1;q13.1) carrier. These imbalanced spermatozoa mainly present as 2, der(20) and der(2), 20 missegregated (approximately 46%) while adjacent 2 and 3:1 segregation patterns account for approximately 5% and 4% of imbalances, respectively. While the translocation is associated clearly with an increased risk of early abortions (7/12) in both male and female carriers, no malformed livebirths were observed. Our results suggest complete embryonic lethality of imbalanced offspring. With respect to a high rate of segregation to 2, der(20) and to der(2), 20 imbalanced spermatozoa in male translocation carriers and with respect to known cases of partial trisomy 2p and 20q we consider that their corresponding monosomies result in fetal loss. This is the first study reporting multiple abortions associated with partial monosomy 20q13.1-->qter and 2pter-->p24.1 and the first report on the frequency of chromosomal imbalances in gametes of a male t(2;20)(p24.1;q13.1) heterozygote.
- - - - - - - - - -
ranking = 4
keywords = meiosis
(Clic here for more details about this article)

5/7. High resolution banding of an unusual reciprocal translocation in recurrent abortions.

    Reciprocal translocations involving two chromosomes frequently cause abortion of unbalanced offspring. In many cases, however, meiosis leads to a cytogenetically normal or balanced gamete with normal embryonal development. In a couple investigated because of recurrent reproductive loss, the husband had a reciprocal exchange of parts of the long arms of chromosomes 9 and 10 in the form of inverted insertions. Due to difficulties in obtaining regular homologous pairing during zygotene, this anomaly might not be compatible with cytogenetically normal or balanced offspring. The diagnosis of this translocation was possible using a previously published alkaline Giemsa G-banding technique.
- - - - - - - - - -
ranking = 1
keywords = meiosis
(Clic here for more details about this article)

6/7. Unstable familial translocations: A t(11;22)mat inherited as a t(11;15).

    Unusual inheritance of a reciprocal translocation, t(11;22)(p11;p12)mat was discovered in a family with one daughter having a different translocation, t(11;15)(p11;p12). Another daughter inherited the same translocation as her mother. The breakpoints through the nucleolar organizing regions (NORs) of chromosomes 15 and 22 were determined by silver staining. A review of the literature has demonstrated that such unstable familial translocations are very rare and can occur either in mitosis or meiosis. They usually involve exchanges between centromeres, telomeres, or NORs.
- - - - - - - - - -
ranking = 1
keywords = meiosis
(Clic here for more details about this article)

7/7. Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation.

    Maternal uniparental disomy (UPD) for chromosome 14 [upd(14)mat] may cause a characteristic phenotype with growth and developmental deficiency and precocious puberty. We report the case of a Japanese infant with an isochromosome 14 [i(14q)] and intrauterine growth retardation (IUGR). The infant is one of triplets comprising a boy (the patient) and two karyotypically normal girls. We analyzed parent-child transmission modes of alleles on the i(14q) at 17 CA-repeat marker loci along the entire length of chromosome 14. Genotypes at 4 proximal and 5 distal loci on the i(14q) were consistent with maternal isodisomy, whereas those at an intervening region indicated maternal heterodisomy. Thus, the derivative chromosome 14 had arisen through a translocation between maternal homologous chromosomes 14 [t(14;14)(p10;q10)] after at least two crossing-over events at the first meiosis. This result also suggests that there must be maternally imprinted gene(s) on 14q, and that loss of the functionally active, paternally derived allele in the same locus may lead to IUGR. Alternatively, IUGR may be an autosomal recessive trait. In the latter case, the mother would be a heterozygote and the putative disease locus would be either at the most proximal or most distal region of 14q.
- - - - - - - - - -
ranking = 1
keywords = meiosis
(Clic here for more details about this article)


Leave a message about 'Abortion, Habitual'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.