1/14. 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 = 1keywords = triploidy (Clic here for more details about this article) |
2/14. endoreduplication of the hyperhaploid maternal complement and abnormal pronuclear formation in a human zygote obtained after intracytoplasmic sperm injection.We report the cytogenetic analysis of a tripronuclear zygote with two polar bodies observed after intracytoplasmic sperm injection. Rare previous investigations of this kind of zygote suggested a diploid or a hypotriploid chromosome constitution. In contrast, the present case turned out to be hypertriploid. Besides the haploid (23,Y) sperm chromosome set, there was a hyperdiploid endoreduplicated (end48,XX, 18, 18) maternal contribution. This zygote not only revealed a peculiar combination of different anomalies (hyperhaploidy of the female gamete, endoreduplication and abnormal pronuclear formation) but also indicates that endoreduplication may sporadically contribute to the generation of triploidy.- - - - - - - - - - ranking = 0.125keywords = triploidy (Clic here for more details about this article) |
3/14. Placental mesenchymal dysplasia associated with fetal aneuploidy.OBJECTIVES: To describe three cases of placental mesenchymal dysplasia (PMD) associated with abnormal karyotype and review the cases reported in the literature. methods: The cases were retrieved from the files of three different institutions. A search of the English language literature was performed using medline database. RESULTS: Placental abnormalities suggestive of molar changes were seen on the prenatal ultrasound scans. Histologically, the cases had large, hydropic stem villi with myxomatous stroma, cistern formation and 'chorangiomatoid' changes. The placental and fetal karyotypes identified were trisomy 13 (47,XX,t(1:13)(q32;q32) 13); klinefelter syndrome (47,XXY) and triploidy (69,XXX). Including these 3 cases, of 66 reported cases, 51 (78%) were female and 14 (22%) male (ratio 3.6:1); the karyotype was normal in 32/36 (89%) and abnormal in 4/36 (11%); beckwith-wiedemann syndrome was confirmed or suspected in 15/66 (23%). Excluding termination of pregnancies, intrauterine death occurred in 18/54 (33%) cases. CONCLUSION: molar ultrasonographic appearances associated with increased maternal serum alpha-fetoprotein but normal, or slightly elevated, levels of ss human Chorionic Gonadotrophin should raise the clinical suspicion of PMD. The diagnosis of this condition should not be disregarded when an abnormal fetus and/or an abnormal karyotype are demonstrated.- - - - - - - - - - ranking = 0.125keywords = triploidy (Clic here for more details about this article) |
4/14. 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 = 0.125keywords = triploidy (Clic here for more details about this article) |
5/14. chromosome aberrations in uterine smooth muscle tumors: potential diagnostic relevance of cytogenetic instability.Cytogenetic studies were carried out on a low-grade metastatic uterine leiomyosarcoma and on a large degenerating uterine leiomyoma. The leiomyosarcoma and leiomyoma were hyperdiploid and hypodiploid, respectively, and both tumors contained multiple consistent chromosome aberrations. In the patient with leiomyosarcoma, flow cytometric studies of proliferative foci from a previously resected uterine leiomyoma revealed near triploidy, suggesting that the leiomyosarcoma was metastatic from an unrecognized malignant uterine primary lesion. The leiomyosarcoma was characterized by extreme cytogenetic instability, whereas the leiomyoma demonstrated cytogenetic stability. The present cases and review of the literature on leiomyosarcomas and leiomyomas reveal cytogenetic instability to be very common in leiomyosarcomas (present in 8 of 10 cases) and uncommon in leiomyomas (present in 1 of 25 cases). A grading system is described which might be useful in evaluating the diagnostic and prognostic relevance of cytogenetic instability in uterine, and other, malignancies.- - - - - - - - - - ranking = 0.125keywords = triploidy (Clic here for more details about this article) |
6/14. A rare case of 68,XX triploidy diagnosed by amniocentesis.68,XX triploidy was found in the amniotic fluid cell culture of a 40-year-old patient. Elective termination of the pregnancy revealed a fetus with multiple congenital anomalies. While this case does show some common features with monosomy X, a greater similarity to the triploidy syndrome is observed.- - - - - - - - - - ranking = 0.75keywords = triploidy (Clic here for more details about this article) |
7/14. Cytogenetic study of a Merkel cell carcinoma.Banded karyotypes from two metastatic sites of a Merkel cell carcinoma were analyzed. The results indicate very close similarity between the two specimens including an overall tendency to triploidy and the same five marker chromosomes. One of the markers represented by two copies in most of the karyotyped cells was 1q-.- - - - - - - - - - ranking = 0.125keywords = triploidy (Clic here for more details about this article) |
8/14. Human triploid embryo: cytogenetic and anatomopathologic study.A cytogenetic and anatomopathologic study of an embryo of 24 mm crown-rump length showing pure triploidy (69,XXY) is reported. Anomalies such as unilateral genitourinary agenesia, aortic alterations, defects in cerebral development, and anomalies of the chorionic villi were detected.- - - - - - - - - - ranking = 0.125keywords = triploidy (Clic here for more details about this article) |
9/14. Early-onset preeclampsia, triploidy and fetal hydrops.Early-onset preeclampsia (16-24 weeks) is frequently associated with fetal and placental anomalies. hydatidiform mole, fetoplacental triploidy with partial molar changes and idiopathic hydrops fetalis are commonly associated ones. Two patients had severe, early-onset preeclampsia and ultrasonically documented fetal anomalies, one fetal triploidy, the other idiopathic hydrops with normal karyotype. The management of early-onset preeclampsia benefits from ultrasonography, and an aggressive search for fetal anomalies is recommended. Seventy-two percent of cases of early-onset preeclampsia in our institution were associated with significant fetal and placental malformations. An immunologic basis of the preeclampsia in these cases seems likely but remains unproven.- - - - - - - - - - ranking = 0.75keywords = triploidy (Clic here for more details about this article) |
10/14. A case of full triploidy (69,XXX) of paternal origin with unusually long survival time.triploidy is a rare disorder in live-born children and these infants generally die within the first hours after birth. We report here on a girl with full triploidy and multiple malformations, who survived for 10 1/2 weeks. The extra set of haploid chromosomes was of paternal origin, as shown by chromosomal banding techniques.- - - - - - - - - - ranking = 0.625keywords = triploidy (Clic here for more details about this article) |
| | Next -> |