1/44. prenatal diagnosis of female monozygotic twins discordant for turner syndrome: implications for prenatal genetic counselling.We describe a set of monozygotic (MZ) female twins, one of whom presented with a typical turner syndrome (TS) phenotype and the other a normal female phenotype. Prenatal fetal ultrasonographic examination showed a monochorial diamniotic pregnancy with a hygroma colli and growth delay in Twin A and no anomalies in Twin B. Karyotypic analysis performed on fetal blood samples demonstrated a 46,XX/45,X (23/2) mosaicism in Twin A and a normal 46,XX chromosome constitution in Twin B. At birth, Twin A presented with a typical TS and Twin B had a normal female phenotype. Postnatal cytogenetic investigation of blood lymphocytes showed the same 46,XX/45,X mosaicism in both twins: 46,XX/45,X (40/7) in Twin A and 46,XX/45,X (40/5) in Twin B. Further investigations at the age of 10 months showed in Twin A a 46,XX/45,X (98/2) mosaicism in lymphocytes and 100% of 45,X (50 analysed cells) in fibroblasts, and in Twin B a normal 46,XX (100 analysed cells) chromosome constitution in lymphocytes but a mild 46,XX/45,X (78/2) mosaicism in fibroblasts. Monozygosity was confirmed by molecular analysis. To our knowledge, this is the first report of prenatal diagnosis of MZ female twins discordant for TS. review of reported sets of MZ female twins (eight cases) or triplets (one case) discordant for TS shows, as in the present case, that the phenotype correlates better with the chromosomal distribution of mosaicism in fibroblasts than in lymphocytes. In the blood of MZ twins chimerism may modify the initial allocation of the mosaicism. These results suggest that, in cases of prenatal diagnosis of MZ female twins discordant for TS, the phenotype of each twin would be better predicted from karyotype analysis of cells from amniotic fluid than from fetal blood.- - - - - - - - - - ranking = 1keywords = pregnancy (Clic here for more details about this article) |
2/44. prenatal diagnosis of Milroy's primary congenital lymphedema.Milroy's primary congenital lymphedema (PCL) (hereditary lymphedema type I, Milroy disease) is present at birth, and mostly affects the dorsal aspects of feet. It is mostly a life-long condition but does not affect longevity. Complications are rare except for chronic discomfort and warmness of affected areas. PCL is an autosomal dominant disease with incomplete penetrance due to a mutation in the gene locus encoding for VEGFR3 with resultant dysgenesis of microlymphatic vessels. We report on two fetuses where ultrasonographic examination at 15 weeks of gestation showed significant edema of the dorsal aspects of both feet with no evidence of other major malformations. Whereas in one fetus the edema resolved completely, it persisted in the second fetus and proved after birth to be of lymphedematous nature. To the best of our knowledge, this is the first report of early prenatal diagnosis of primary congenital lymphedema via fetal ultrasonographic examination and of spontaneous resolution of lymphedema during fetal life.- - - - - - - - - - ranking = 0.19012122634638keywords = gestation (Clic here for more details about this article) |
3/44. Spontaneous pregnancy in a woman with 45,X/47,XXX mosaicism in both serum and germ cell lines. A case report.BACKGROUND: This is the first published case report of pregnancy in a women with 45, X/47, XXX mosaicism in both blood and germ cell lines. CASE: The patient conceived, and analysis of ovarian tissue confirmed a karyotype of 45, X/47, XXX. CONCLUSION: women with a 45, X/47, XXX karyotype in the germ cell line can conceive, as this case demonstrates.- - - - - - - - - - ranking = 5keywords = pregnancy (Clic here for more details about this article) |
4/44. A spontaneous and uneventful pregnancy in a Turner mosaic with previous recurrent miscarriages.BACKGROUND: Conception without ovum donation is very rare in patients with turner syndrome, occurring mainly in mosaics, and only a third of these natural pregnancies are associated with normal outcome. CASE REPORT: A spontaneous pregnancy is described in a Turner mosaic (45,X/46,XX) with normal puberty and nine previous first-trimester miscarriages who had refused ovum donation. She also declined antenatal genetic diagnosis. Pregnancy remained uneventful with frequent surveillance and psychosocial support. She delivered a live boy weighing 3260 g (50(th) percentile) and measuring 48 cm (50(th) percentile) with normal karyotype at term. CONCLUSION: The diagnosis of mosaic turner syndrome should be considered in women who have recurrent abortion. Pregnancy may have a good outcome in these patients despite the greater likelihood of recurrent miscarriage.- - - - - - - - - - ranking = 5keywords = pregnancy (Clic here for more details about this article) |
5/44. Cystic hygromas associated with Turner's syndrome. Report of three cases.Three cases of cystic hygromas are reported. Two of these were singleton pregnancies diagnosed at 20 weeks' gestation and the other was an affected fetus in a twin pregnancy at 19 weeks gestation. amniocentesis was done and chromosomal analysis revealed turner syndrome in all cases. The two singleton pregnancies were terminated by intrauterine installation of PgF2a. The affected fetus of the twin pregnancy died at 24 weeks' gestation and the pregnancy continued.- - - - - - - - - - ranking = 3.5703636790391keywords = pregnancy, gestation (Clic here for more details about this article) |
6/44. A nonmosaic 45,X karyotype in a mother with Turner's syndrome and in her daughter.OBJECTIVE: To describe a woman with a nonmosaic (45,X) form of Turner's syndrome who gave birth to a girl with 45,X turner syndrome. DESIGN: Patient report. SETTING: Outpatient clinic of a university hospital. PATIENT(S): A woman with typical phenotypic features of turner syndrome and a 45,X karyotype and her daughter with the same karyotype. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Routine karyotype analysis on 200 white blood cells on two different occasions, on skin fibroblasts (1,000 mitoses) and on ovarian fibroblasts. Translocation of X-chromosome material was investigated by a complete X paint and fluorescent in situ hybridization analysis. RESULT(S): The patient had a spontaneous puberty and became pregnant on three occasions. Her first daughter has a normal karyotype, the second pregnancy ended in spontaneous abortion, and after the third pregnancy, a girl was born with a 45,X karyotype. karyotype analysis of a large number of mitoses in three different cell types failed to demonstrate any mosaicism. Translocation of X-chromosome material was ruled out by fluorescent in situ hybridization analysis with an X paint. CONCLUSION(S): This is a rare case of pregnancy in a nonmosaic turner syndrome patient and, to our knowledge, is the only one that resulted in a live-born baby with the same karyotype. Cryptic mosaicism could not be found despite thorough investigations. Some hypotheses are presented that may explain this unique event.- - - - - - - - - - ranking = 3keywords = pregnancy (Clic here for more details about this article) |
7/44. 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 = pregnancy (Clic here for more details about this article) |
8/44. Spontaneous pregnancy and birth of a normal female from a woman with turner syndrome and elevated gonadotropins.OBJECTIVE: To provide data for pregnancies in girls with turner syndrome. Only 5%-10% of TS girls undergo spontaneous puberty and have menses. Spontaneous pregnancy occurs in 2%-7% of TS girls and is associated with a high rate of miscarriages, stillbirths, malformations, and chromosomal aberrations. Besides fetal problems, pregnancy in TS girls is of high risk for the mothers as well. DESIGN: Case report. SETTING: Academic unit. PATIENT(S): One patient, now aged 28 years, was referred for short stature at age 13 years after an operation for coarctation of the aorta. The karyotype was 88% 45X, 5% 46XX, 5% 47XXX, 2% XO Fr. The gonadotropin values at presentation and on follow-up ranged from high normal to high levels. Pubertal development and menses occurred spontaneously. At the age of 20 and 21 years, dominant follicles of 14 and 17 mm, respectively, were found on sonography. She conceived spontaneously at the age of 26 years and had an uneventful pregnancy, giving birth to a normal girl with normal chromosome constitution and birth weight of 2,800 g. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): pregnancy outcome. RESULT(S): Successful spontaneous pregnancy. CONCLUSION(S): Bearing in mind the serious problems of fertility and pregnancy outcome encountered in TS girls, we considered such a rare escape from the expected course of biological events to be worth reporting.- - - - - - - - - - ranking = 9keywords = pregnancy (Clic here for more details about this article) |
9/44. Pregnancies at a late reproductive age in a patient with Turner's syndrome: case report and review of the literature.women with Turner's syndrome are usually sterile. It is unusual for women with Turner's syndrome to give birth after the age of 34 and those who proceed with pregnancy are at a higher risk of having spontaneous miscarriage and chromosomally malformed children necessitating genetic counselling.- - - - - - - - - - ranking = 1keywords = pregnancy (Clic here for more details about this article) |
10/44. Isodicentric Yp: prenatal diagnosis and outcome in 12 cases.OBJECTIVES: 1.To present the prenatal cytogenetic findings and postnatal outcome of 12 cases with an isodicentric chromosome composed of the short arm of the y chromosome.2.To review the literature and provide recommendations for cytogenetic analysis and counseling. methods: Prenatal and postnatal cytogenetic data and clinical findings of isodicentric Yp ascertained in six institutions were gathered and reviewed. RESULTS: Nine of the twelve cases were referred for advanced maternal age (AMA), one of which was a twin pregnancy with one twin having an increased nuchal translucency measurement. The remaining cases were referred owing to a family history of hemophilia and an abnormal maternal serum screen, respectively. Nine of these pregnancies resulted in the birth of a normal-appearing male infant with subsequent normal growth and psychomotor development. Follow-up ranged from birth to 7 years. In two cases, the pregnancy was terminated and the fetuses showed male external genitalia. In the case ascertained because of an increased nuchal translucency measurement, the prenatal diagnosis of 45,X was made. At birth, there were ambiguous genitalia, and postnatal cytogenetic studies found an isodicentric Yp. In 11 of the 12 cases, mosaicism was present. CONCLUSION: Our cases show that the prenatal finding of an isodicentric Yp, with or without 45,X mosaicism, is compatible with normal male phenotype in most cases, particularly in the absence of other anomalies. To ensure accuracy in cytogenetic reporting and prenatal counseling, the identification of a structurally abnormal or small y chromosome, either alone or in the presence of 45,X colonies, should be followed immediately by confirmatory molecular cytogenetic investigations as well as by ultrasound determination of the phenotypic sex of the fetus.- - - - - - - - - - ranking = 2keywords = pregnancy (Clic here for more details about this article) |
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