1/16. Clinical details, cytogenic studies,and cellular physiology of a 69, XXX fetus, with comments on the biological effect of triploidy in man.A triploid fetus, 69, XXX, aborted spontaneously at 26 weeks' gestation. It had multiple abnormalities including syndactyly of the hands and feet single palmar creases, hypoplasia of the adrenals and ovaries, hypertrophy of thigh muscles, and abnormalities of the brain. The placenta was large and showed hydatidiform degeneration. The pregnancy had been complicated by acute dyspnoea, pre-eclampsia, and postpartum haemorrhage. Detailed cytogenetic studies, using banding and fluorescence techniques, were performed on fetus and parents. Meiotic studies were made on the fetal ovaries. Muscle cell differentiation and electrophysiological relationships of cultured skin fibriblasts were examined in an attempt to study the way in which the extra haploid set of chromosomes exerts its effect on the phenotype. The antenatal diagnosis of late triploidy is discussed. The finding that 25 per cent of late triploids have spina bifida is further evidence that meningomyelocele has a genetic component and strongly suggests that this results from chromosomal imbalance or a regulatory gene disturbance.- - - - - - - - - - ranking = 1keywords = triploidy (Clic here for more details about this article) |
2/16. Digynic triploid infant surviving for 46 days.We report on a triploid infant who survived for 46 days. She had severe intrauterine growth retardation, relative macrocephaly, and a small, noncystic placenta, which are manifestations compatible with type II phenotype. Cultured amniotic fluid cells, skin fibroblasts, cord blood, and peripheral blood lymphocytes all showed a nonmosaic 69,XXX karyotype. Analysis of chromosomal heteromorphisms and microsatellite dna polymorphisms in the infant and her parents indicated that the extra haploid set in the infant resulted from nondisjunction at maternal second meiosis. Postzygotic, mitotic nondisjunction was ruled out because of the presence of both homozygous and heterozygous markers of maternal origin. A search of the literature demonstrated five triploid infants, including the girl we described, who survived 4 weeks or more, and the parental origin of whose triploidy was studied: four were digynic and one was diandric. These findings support the notion that type II triploids are digynic in parental origin and that they survive longer than type I, diandric triploids.- - - - - - - - - - ranking = 0.2keywords = triploidy (Clic here for more details about this article) |
3/16. An unusual case of trisomy and triploidy in a chorion villus biopsy.A case is reported of a 35-year-old woman who underwent a chorion villus biopsy (CVB) at 17 weeks' gestation after intrauterine growth retardation and oligohydramnios were diagnosed by ultrasound scan. Chromosome analysis of the CVB direct preparations showed a 47,XX, 6 karyotype in all cells. The pregnancy was terminated and subsequent analysis of cultured cells from both the CVB and the post-mortem placenta showed three cell lines: 46,XX, 47,XX, 6 and 69,XXX, while fetal skin and muscle were entirely 69,XXX. An explanation is proposed for the origin and distribution of the three cell lines.- - - - - - - - - - ranking = 0.8keywords = triploidy (Clic here for more details about this article) |
4/16. A human B-cell lymphoma line with a de novo multidrug resistance phenotype.A human diffuse large cell lymphoma line (WSU-DLCL) expressing multidrug resistance (MDR) was established from a patient with primary chemotherapy-resistant disease. This cell line has the same phenotypic features as malignant cells from the patient. The established cell line has features of a mature B-cell neoplasm with no evidence for commitment to other lineages. WSU-DLCL grows in suspension forming relatively large clumps of cells with a doubling time of 20 hours. By light microscopic examination, the cells are very large with primitive lymphoid features, have a large amount of cytoplasm containing numerous vacuoles and an irregular outline. Immunophenotypic characterization by monoclonal antibodies and flow cytometric analysis showed a monoclonal IgM kappa B-cell phenotype with high expression of the multidrug-resistant p-glycoprotein compared with either normal peripheral blood lymphocytes or cells of the REH cell line. The cells were negative for T-cell and myeloid/monocyte antigens as well as Epstein-Barr virus nuclear antigen (EBNA). In addition, the cell line expressed high levels of MDR rna. dna histogram generated by flow cytometry indicated a dna index of 1.83. cytogenetic analysis confirmed hypertriploidy and showed complex chromosomal abnormalities including 14q . This cell line should be a valuable tool to study the role of the MDR gene in the primary resistance of lymphomas to chemotherapy and to facilitate therapeutic investigations.- - - - - - - - - - ranking = 0.2keywords = triploidy (Clic here for more details about this article) |
5/16. prenatal diagnosis of triploidy. A case report.Fetal triploidy can be suspected but not diagnosed based on ultrasonographic findings. A patient was diagnosed with fetal triploidy in the second trimester.- - - - - - - - - - ranking = 1.2keywords = triploidy (Clic here for more details about this article) |
6/16. Transient progeroid phenotype and lipodystrophy in mosaic polyploidy.Wiedemann-Rautenstrauch syndrome is a rare disorder with a progressive course and early lethality. Severe mental and growth retardation, muscle hypotonia, a progeroid face, wrinkled skin, relative macrocephaly with late closure of the anterior fontanel, arachnodactyly and congenital heart defects are also typical. We report on a female infant with all the characteristic features of this syndrome after birth. Chromosomal studies on peripheral leukocytes showed a normal karyotype. In view of an abnormal lipid distribution and lipodystrophy, metabolic studies for congenital disorders of glycosylation have been performed with normal results. At the age of 2 years 6 months the progeroid signs were no longer present, and the patient had a striking improvement in her psychomotor development. As there are overlapping features in Wiedemann-Rautenstrauch syndrome and in mosaic polyploidy, including psychomotor retardation, reduced peripheral muscle bulk, arachnodactyly and lipodystrophy, chromosome analysis was performed in the fibroblast culture of our patient. A mosaic triploidy/tetraploidy was detected in 60% and 14% of the cells, respectively. We therefore recommend chromosome analysis of fibroblasts from patients with a neonatal presentation of progeroid features and lipodystrophy.- - - - - - - - - - ranking = 0.2keywords = triploidy (Clic here for more details about this article) |
7/16. Evaluation of elevations in maternal serum alpha-fetoprotein: a review.Maternal serum AFP screening has had significant clinical impact on reducing unrecognized anencephaly and open neural tube defects at delivery. In addition, a growing number of other associations with maternal serum AFP elevations have become apparent since antepartum screening has become commonplace. We present in this review a clinically oriented approach to understanding the physiologic basis of maternal serum AFP elevations, both true- and false-positives. Compartmentalization of etiology, fetal and maternal, and routes of communication, amniotic fluid and placenta, allows a more logical approach to developing a differential diagnosis in this group of patients. In evaluating an elevation in maternal serum AFP, it is first necessary to consider the amount of fetal production by confirming the gestational age of the fetus and the number of fetuses present. Adjustments for maternal factors (weight, race, diabetes) must also be made. Fetal developmental defects which may lead primarily to leakage of the fetal proteins into the surrounding amniotic fluid with secondary elevations of maternal serum AFP enter into the differential diagnosis. The placenta itself is probably not a production source of AFP, but when the placenta is abnormal, a greater amount of AFP may be transported to the maternal circulation. Although our thoughts frequently do turn first to an increased maternal serum AFP reflecting an increased AFP concentration in the amniotic cavity with greater transference "across the membranes," in fact a far more common etiology is an increased transfer from the fetal circulation to the maternal via the fetal-maternal interface within the placenta. This is supported by the simple fact that the vast majority of maternal serum AFP elevations are not associated with amniotic fluid AFP elevations; the amniotic fluid AFP concentrations are usually normal. Thus, in circumstances where the fetal anatomy is grossly normal and there is not another explanation for elevations in maternal serum AFP, the placenta, either secondary to providing increased areas of transport or in providing an abnormal endothelial barrier, allows for greater transfer of fetal serum, and thus AFP, into the maternal compartment. An abnormal placenta is also a likely explanation for the increased risk of adverse pregnancy outcome that is associated with increased maternal serum AFP elevations for which no obvious etiology is found. The case herein reported suggests that an abnormal placenta which provides an altered interface for AFP flow between the fetal and maternal circulations may in fact be the etiology of the significant elevations of maternal serum AFP seen in cases of triploidy.(ABSTRACT TRUNCATED AT 400 WORDS)- - - - - - - - - - ranking = 0.2keywords = triploidy (Clic here for more details about this article) |
8/16. triploidy syndrome. A report on two live-born (69, XXY) and one still-born (69, XXX) infants.Two live-born cases, 69,XXY and one stillbirth, 69,XXX are reported. Further evidence is presented to delineate the triploidy syndrome. Common external and internal features which characterize the triploidy syndrome are low-set ears, hypertelorism, colobomata, syndactyly, simian creases, microphallus, undescended testes, scrotal aplasia, anomalous heart and hypoplasia of kidneys and adrenals. The triploidy syndrome encompasses features found in trisomies 13, 18 and 21. We suggest that the abnormal development of the triploidy infants is the result of the mentioned trisomies and their subsequent effect on the remaining genome.- - - - - - - - - - ranking = 0.8keywords = triploidy (Clic here for more details about this article) |
9/16. 69,XXX karyotype in a malformed liveborn female. Maternal origin of triploidy.A liveborn female with a 69,XXX karyotype and clinical features of triploidy syndrome is reported. Main phenotypical features are: intrauterine growth retardation, hypotonicity, micrognathism, low-set ears, ocular anomalies, syndactyly and atrophy of the cerebral cortex and corpus callosum. Study of chromosomal heteromorphisms revealed that triploidy might have arisen through fertilization of a diploid ovum by a haploid sperm (diginy).- - - - - - - - - - ranking = 1.2keywords = triploidy (Clic here for more details about this article) |
10/16. A boy with complete triploidy and unusually long survival.A boy with complete triploidy and extensive external and internal congenital malformations who survived for almost seven months is presented. He was born after 31 weeks of gestation, was utterly small for gestational age and the delivery was induced because of intrauterine asphyxia. The infant had typical features of the complete triploidy syndrome. He did not develop mentally or motorically even to a normal neonatal level. Banding analysis of chromosomes and HLA-antigen typing of the patient and his parents suggested that the abnormal cell division had occurred during the oogenesis. The boy suffered a fatal pneumocystis carinii infection, suggesting defective cellular immunity. In the vast majority of previously reported cases of complete triploidy the infant has died either before birth or within the first postnatal hours and except for four patients, all reported patients have died before the age of 2 months. Our patient illustrates the fact that with modern neonatal intensive care, infants with severe malformation syndromes can survive for longer periods than previously, but in the case of patients with the complete triploidy syndrome without developing mentally at all. The ethical problem of artificially prolonged survival in severely handicapped children is discussed.- - - - - - - - - - ranking = 1.6keywords = triploidy (Clic here for more details about this article) |
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