1/32. 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) |
2/32. 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) |
3/32. Gonadal pathology in triploidy.There are numerous reports describing the pathology of the fetus and placenta in triploidy. Although gonadal pathology is described in many of these reports, consistent changes have not been noted nor is it clear whether genital ambiguity can be considered part of the triploid phenotype. We present a case of triploidy of probable diandric origin, in which there were dysgenetic gonads with abnormal seminiferous tubules, nodules of undifferentiated stroma, and focal absence of the tunica albuginea. As this finding was distinctly unusual in our experience of triploid gonadal pathology, we reviewed the gonadal histology in 51 fetal and infant triploids examined in our autopsy/embryopathology laboratory. The gonads were compared to age-matched normal controls to determine if there was a specific gonadal pathology associated with triploidy and if there was any correlation of this pathology with parental origin of the triploidy. Our review of the triploid gonads indicated that while minor, nonspecific changes were not uncommon, overtly dysgenetic gonads, as observed in the index case, are rare.- - - - - - - - - - ranking = 1.6keywords = triploidy (Clic here for more details about this article) |
4/32. Partial molar appearance of the placenta in trisomy 13.Although molecular studies have shown that more than 90% of partial moles are secondary to diandric triploidy, there are some rare cases with tetraploidy or unspecified aneuploidies. We diagnosed 3 cases of partial mole presentation during the 2nd trimester of pregnancy with multiple fetal abnormalities. In all 3 cases, cytogenetic studies showed trisomy 13. We present the cases and discuss the clinical and pathological aspects of the conditions presented as partial moles.- - - - - - - - - - ranking = 0.2keywords = triploidy (Clic here for more details about this article) |
5/32. The clinical syndrome of triploidy.The clinical syndrome associated with triploidy is quite typical but is rarely reported in near-term stillborns and newborns. The occurrence of a large placenta with areas of hydatidiform changes in combination with an edematous fetus with macroglossia, facial clefts, eye defects, dysplastic cranial bones, omphalocele, meningomyelocele, syndactyly, and, in males, genital maldevelopment is suggestive of a triploid chromosomal constitution.- - - - - - - - - - ranking = 1keywords = triploidy (Clic here for more details about this article) |
6/32. triploidy in a twin pregnancy: small placenta volume as an early sonographical marker.INTRODUCTION: We report a case of a twin pregnancy with triploidy of maternal phenotype of one foetus and no chromosomal anomaly of the other twin and the role of sonographical placental volumetry. CASE: At 12 weeks of gestation, a dichorionic twin pregnancy discordant in growth is diagnosed. 3D ultrasound reveals a distinctly small placental volume of foetus II. amniocentesis at 16 weeks discloses triploidy of this foetus. Sonography reveals asymmetrical foetal growth retardation, a severe heart defect and bilateral cleft lip and palate, typical findings in triploidy. Selective feticide at week 20 3 is followed by pre-term birth of foetus I at 27 weeks. CONCLUSION: Small placental volume in addition to growth restriction of one foetus early in the course of a twin pregnancy could be an important early marker influencing the decision for chorionic villous sampling at 12 weeks instead of amniocentesis at 16 weeks and it could lead to an earlier selective pregnancy termination of a triploid twin. This would lower the risk of pre-term birth and enable a better outcome for the remaining healthy foetus.- - - - - - - - - - ranking = 0.6keywords = triploidy (Clic here for more details about this article) |
7/32. Full 69,XXY triploidy and sex-reversal: a further example of true hermaphrodism associated with multiple malformations.A 20-week gestational age fetus with full triploidy and multiple malformations is presented. In all examined lymphocytes, fibroblasts and chorionic villi, a 69,XXY karyotype was found. autopsy examination revealed bilateral ovotestes but, no evidence of Mullerian derivatives.- - - - - - - - - - ranking = 1keywords = triploidy (Clic here for more details about this article) |
8/32. Triploid mosaicism in a 45,X/69,XXY infant.We report on an infant referred for chromosome analysis during the neonatal period due to ambiguous genitalia. The genitalia appeared male with bilaterally palpable testes, penoscrotal hypospadias, chordee, and a bifid scrotum. Chromosome analysis and interphase FISH analysis of lymphocytes showed a 45,X karyotype and no evidence for SRY in 200 nuclei examined, respectively. Subsequent chromosome analysis of fibroblasts revealed a 69,XXY karyotype. Molecular studies were carried out to determine the etiology of the chromosome findings. Results indicated that the two cell lines are mosaic rather than chimeric and that the triploidy resulted from delayed dispermy rather than delayed polar body inclusion. To our knowledge this is the first reported living individual with (near) diploid/triploid mosaicism for 45,X/69,XXY.- - - - - - - - - - ranking = 0.2keywords = triploidy (Clic here for more details about this article) |
9/32. 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) |
10/32. Long survival in a 69,XXX triploid infant in greece.The live birth of a triploidy infant is a very rare event and death usually occurs within the first hours of life. Triploid cases with a survival of more than two months are infrequent. We report on an infant with a 69,XXX chromosome constitution who survived 164 days. Chromosomal analysis demonstrated a 69,XXX karyotype with no evidence of mosaicism. This is the longest survival reported for this condition to date in greece and the fourth longest worldwide. The infant was admitted to our clinic several times due to respiratory problems, and supplementary oxygen was required. The improved survival of our case was possibly due to better management of respiratory illness and prematurity, and these are essential factors that physicians should consider carefully with such rare cases.- - - - - - - - - - ranking = 0.2keywords = triploidy (Clic here for more details about this article) |
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