1/6. A point mutation, R59G, within the HMG-SRY box in a female 45,X/46,X, psu dic(Y)(pter-->q11::q11-->pter).We report a molecular and cytogenetic investigation of a psu dic(Yp) chromosome identified in blood and ovarian tissue from a female with mosaic karyotype 45,X/46,X, psu dic(Yp). FISH analysis showed that the psu dic(Yp) has two copies of the short arm, two centromeres and two copies of the proximal long arm. PCR analysis also confirmed the presence of the SRY gene and the Y centromere, and also confirmed the deletion of the Y-heterochromatic region. Because of the possibility of a mutation, a fragment of 609 bp of the SRY gene was sequenced from independent PCR products. The analysis of the sequence indicated the presence of two different copies of the gene: one presented a point mutation, R59G, within the HMG-box; the other had a sequence identical to that already published. Both sequences were found at a proportion of 1:1. The absence of a 46,XY cell line suggests that the rearrangement took place during gametogenesis or during the first division after fertilization. Also, the existence of different sequences of the SRYgene in the same y chromosome suggests that the formation of the dicentric took place prior to the mutation of the SRY gene. To our knowledge, this is the first time that a mutation has been described in codon 59 within the HMG- SRY box, and also the first case of a psu dic(Yp) chromosome that displays two different copies of the SRY gene.- - - - - - - - - - ranking = 1keywords = fertilization (Clic here for more details about this article) |
2/6. Spontaneous pregnancies in a turner syndrome woman with Y-chromosome mosaicism.PURPOSE: To present a case involving pregnancies in a Turner woman with Y-chromosome mosaicism. METHOD: A descriptive case report of a single patient. RESULTS: A 39-year-old woman was admitted to the endocrine clinic due to fatigue and premature menopause. She had tried in-vitro fertilization and oocyte donation twice without pregnancies but became spontaneously pregnant at age 36 and 37 and delivered two girls. During the seventh month of the second pregnancy, a dissecting aortic aneurysm, a coarctation, and subsequently a pheochromocytoma were detected and repaired. hypothyroidism developed. turner syndrome was diagnosed. fluorescence in situ hybridization (FISH) analysis of lymphocytes revealed 31% XY cells and 4% XYY cells, while 66% of buccal cells had an XY constitution. Oophorectomy revealed no malignancy. FISH revealed 54% XY cells in the left gonad and 38% XY cells in the right. CONCLUSION: turner syndrome should be suspected in women with aortic dissection, in general, but especially in those with additional features such as horseshoe kidney, coarctation, and infertility.- - - - - - - - - - ranking = 1keywords = fertilization (Clic here for more details about this article) |
3/6. A boy with true hermaphroditism and sex chromosome mosaicism and a fertile woman with Turner mosaicism in a family with a translocation 8p:19P.In a family with a balanced translocation t(8;19)(p21p13), there was a boy with true hermaphroditism and a karyotype 46,XX/46XY, t(8p;19p), and a woman with Turner mosaicism 46,XX, t(8p;19p). Both of them had whole body chimerism, which in the boy and possibly also in woman was due to the occurrence of double fertilization followed by fusion of the zygotes. The pathogenetic importance of the translocation for the development of these aberrations, and the clinical picture in the two patients are discussed.- - - - - - - - - - ranking = 1keywords = fertilization (Clic here for more details about this article) |
4/6. Fetal outcome of triplets in a Turner mosaic.Pregnancies are now being reported resulting from fertilization of donor oocytes in women with ovarian failure. A case of triplets in a Turner mosaic is reported herein following transfers of embryos resulting from donor oocytes. She had previously demonstrated a normal sized uterine cavity by hysterosalpingography. The opinion from our group was that she should consider selective reduction but a perinatology consult thought she should have a favorable outcome. Her pregnancy was complicated by polyhydramnios, pre-term labor, and eventual fetal demise at 25 and 27 weeks of all three fetuses. Natural pregnancies in patients with gonadal dysgenesis have been reported in at least 138 patients. Many aborted or had stillbirths and this high rate of fetal mortality has been ascribed to chromosomal abnormalities. The continued use of donor oocytes will provide data to evaluate whether there will continue to be a higher spontaneous abortion rate and complications in second and third trimesters in Turner's pregnancies even in single pregnancies. The outcome of this case can at least be provided to future gonadal dysgenesis patients with triplets to help them in their decision as to whether or not to have selective reduction.- - - - - - - - - - ranking = 1keywords = fertilization (Clic here for more details about this article) |
5/6. pregnancy in a woman with Turner mosaicism following ovarian stimulation and in vitro fertilization.We conclude that women with Turner mosaicism (46XX/45XO) and normal FSH levels may have an adequate ovarian reserve and undergo attempts at traditional assisted reproduction. At the time of retrieval an ovarian biopsy may be performed in order to evaluate directly the ovarian karyotype. A successful pregnancy resulted from oocytes retrieved from the gonad demonstrating a normal karyotype.- - - - - - - - - - ranking = 4keywords = fertilization (Clic here for more details about this article) |
6/6. pregnancy in patients with Turner's syndrome: six new cases and review of literature.pregnancy in women with Turner's syndrome (TS) is an exceptional event, but is possible in 2% of cases. It can occur in patients with structural anomalies of the X chromosomes in which the Xq13-q26 region, containing the genes that are thought to control ovarian function, is spared; or in patients with a mosaic karyotype containing an 46,XX cell line, which preserves ovarian function. In our Centre we observed six cases of women with Turner's syndrome conceiving. Out of 13 pregnancies, there were six abortions and eight live-births; among the latter, four babies exhibited malformations. Reviewing the literature shows that out of 160 pregnancies which occurred in 74 women with TS, 29% ended in spontaneous abortion, 7% led to the perinatal death of the fetus, 20% gave birth to malformed babies (TS, Down's syndrome, etc.) and only in 38% of cases were healthy children born. This study suggests that the rare TS patients who are able to procreate should undergo prenatal diagnosis techniques. In sterile TS patients the use of artificial fertilization techniques is a possible solution.- - - - - - - - - - ranking = 1keywords = fertilization (Clic here for more details about this article) |