Cases reported "Infertility"

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1/5. Molecular cloning of translocation breakpoints in a case of constitutional translocation t(11;22)(q23;q11) and preparation of probes for preimplantation genetic diagnosis.

    in vitro fertilization (IVF) centres with preimplantation genetic diagnosis (PGD) programmes are often confronted with the problem of identifying chromosomal abnormalities in interphase cells biopsied from preimplantation embryos of carriers of a reciprocal translocation. The present authors have developed a dna testing based approach to analyse embryos from translocation carriers, and this report describes breakpoint-spanning probes to detect abnormalities in cases of the most common human translocation (i.e. the t(11;22)(q23;q11)). Screening a yeast artificial chromosome (YAC) library for probes covering the respective breakpoint regions in the patient lead to probes for the breakpoint on chromosome 11q23. The physically mapped YAC and bacterial artificial chromosome (BAC) clones from chromosome 22 were then integrated with the cytogenetic map, which allowed localization of the breakpoint on chromosome 22q11 to an interval of less than 84 kb between markers D22S184 and KI457 and to prepare probes suitable for interphase cell analysis. In summary, breakpoint localization could be accomplished in about 4 weeks with additional time needed to optimize probes for use in PGD.
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ranking = 1
keywords = phase
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2/5. Cytogenetic evaluation of human oocytes that failed to complete meiotic maturation in vitro.

    OBJECTIVE: To determine the cause of infertility in a couple whose oocytes failed to mature in two consecutive fertility treatments. DESIGN: Case report. SETTING: University-based IVF program. PATIENT(S): A 32-year-old woman with unexplained infertility. INTERVENTION(S): Cytogenetic evaluation of oocytes that failed to reach meiotic metaphase II stage of maturation. MAIN OUTCOME MEASURE(S): observation of oocyte maturity and chromosome composition after fixing and staining with Orcein stain. RESULT(S): cytogenetic analysis revealed that the oocytes had successfully resumed meiosis. Germinal vesicle breakdown was also indicated, and chromosomes were at metaphase II stage of development. However, meiotic reduction of those chromosomes failed. CONCLUSION(S): infertility in this couple seems to be attributed to the failure of the chromosomes to complete the reduction phase of metaphase II of meiosis.
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ranking = 1881.1768686981
keywords = meiosis, phase
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3/5. A balanced complex chromosomal rearrangement (BCCR) in a family with reproductive failure.

    Balanced complex chromosomal rearrangements are very rare events in the human population. Translocations involving three or more chromosomes frequently lead to a severe reproductive impairment secondary to meiotic disturbance in males and to chromosomal imbalance in gametes of females. We report a new familial case of complex chromosome anomaly involving chromosomes 13, 14 and 22. Cytogenetic investigations showed a complex chromosomal chromosome rearrangement involving: (i) a Robertsonian translocation between chromosomes 13 and 14; and (ii) a reciprocal translocation between the long arms of chromosome 14 and the long arm of chromosome 22. The aetiology of the translocation was characterized by conventional fluorescence in-situ hybridization (FISH) studies and routine R- and G-banding (RTBG and GBTG) combined with alpha and beta satellite centromeric FISH probes. Predicted configuration of the hexavalent at pachytene stage of meiosis was used to consider the modes of segregation; only two configurations resulted in a normal or balanced gamete karyotype. Reproductive management and genetic counselling are discussed.
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ranking = 939.58843434903
keywords = meiosis
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4/5. estradiol and progesterone supplementation during luteal phase improved the receptivity of the endometrium in a patient with a history of diethylstilboestrol exposure in-utero.

    BACKGROUND: Diethylstilboestrol (DES) exposure in-utero has been shown to have negative effects on pregnancy. DES-exposed women are at increased risk of early spontaneous pregnancy loss, ectopic gestation and infertility. DESIGN: A 34-year old woman with a 6-year history of primary infertility is presented. The patient underwent in vitro fertilization (IVF) treatment without success. To improve the quality of the endometrium following IVF treatment, E2 and progesterone supplementation was added to the usual therapeutic regimen. The pregnancy progressed uneventfully and a normal female was born. CONCLUSIONS: This case indicates that the administration of E2 and progesterone in DES-exposed women might improve endometrium receptivity and consequently pregnancy outcome.
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ranking = 2
keywords = phase
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5/5. Synergistic effect of growth hormone and gonadotropins in achieving conception in "clonidine-negative" patients with unexplained infertility.

    Based on preliminary reports by others and by us of a potentiating effect of growth hormone (GH) on human menopausal gonadotropin (hMG)-induced ovulation, a study using a randomized, prospective, cross-over protocol between GH hMG/human chorionic gonadotropin (hCG) and hMG/hCG was undertaken. The study included patients with long-standing (2-11 years) unexplained infertility with a negative or reduced GH response to clonidine (up to 150 micrograms of clonidine orally). The first cycle was randomly assigned between GH/hMG/hCG (study cycle) and hMG/hCG alone (control cycle), and after an interval cycle the patient's treatment was crossed over. All patients who completed the study had previously undergone 1-20 attempts at ovulation induction for in vitro fertilization (IVF) and 5-40 cycles of ovulation induction for in vivo fertilization at three different medical centers. Three patients conceived on the combined GH/hMG cycle, with diminution in the hMG consumption needed for ovulation induction in the study cycles. Another patient with long-standing mechanical infertility underwent 11 abortive attempts at ovulation induction with hMG for IVF but has never achieved egg retrieval. On the GH/hMG/hCG ovulation induction cycle, three mature ova were retrieved as opposed to no response and cancellation of the "hMG only" cycle. Another patient with 11 years of primary infertility who had undergone 21 previous attempts at ovulation induction and had reached follicular aspiration in only three of those cycles conceived spontaneously on the first cycle after the GH/hMG/hCG IVF/ET cycle. All four pregnancies that have been achieved by now in seven GH/hMG-treated patients ended in cesarean deliveries of four normal male neonates. No correlation was found between the follicular fluid levels of insulin-like growth factor i (IGF-I) and the fertilization rate in vitro. The peripheral IGF-I levels were significantly higher during the follicular phase of the study cycles than during the respective stage of the control cycles or the luteal phase of either cycle. A study of serum GH-binding protein (GH-BP) levels revealed gradual increases in the late follicular phase, in the luteal phase, and in early pregnancy. On the basis of this study and in keeping with earlier reports, we conclude that the addition of GH to hMG/hCG may serve as a contributory adjunct in selected patients. However, in contrast to others who could not find a correlation between the response to acute tests for GH release and the ovarian response to combined treatment, we conclude that the clonidine test can play a discriminatory role in identifying patients who may benefit from this innovative combination.
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ranking = 2
keywords = phase
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