1/7. First trimester diagnosis of holoprosencephaly and cyclopia with triploidy by transvaginal three-dimensional ultrasonography.We present the prenatal three-dimensional (3D) ultrasound findings in a case of holoprosencephaly and cyclopia at 11 weeks gestation. Only holoprosencephaly with missing cyclopia were initially diagnosed because suboptimal views of the fetal face were obtained with transvaginal two-dimensional (2D) ultrasonography due to fetal position. chromosomes identified by analysis of a fluid sample from early amniocentesis demonstrated a triploidy (69, XXX), spontaneous fetal demise occurred at 12 weeks and the pregnancy was terminated. This case demonstrated the usefulness of transvaginal 3D ultrasonography in establishing the final diagnosis.- - - - - - - - - - ranking = 1keywords = triploidy (Clic here for more details about this article) |
2/7. trisomy 16 confined to the placenta.Two cases with trisomy 16 confined to the placenta are presented. prenatal diagnosis was indicated because of fetal growth retardation. In case 1, a phenotypically normal but small-for-date boy was born. In case 2, the fetus turned out to be triploid on cordocentesis. In both instances the trisomy 16 was recovered from the placenta. Recovery indicates that the abnormality was present in the placenta during the time of fetal growth retardation, which supports an aetiological relationship. Strict appliance of the current models cannot readily explain the observed discrepancies. In case 2, a chimeric placenta as a result of a vanishing twin is assumed. Cases of placental trisomy 16 published after 1988 are reviewed. It is concluded that confined placental trisomy 16 can cause intrauterine growth retardation if present in both the direct preparation and the villus culture. The chances of finding a chromosomally abnormal fetus (mosaic trisomy 16, triploidy) after diagnosis of trisomy 16 in chorionic villi are low but warrant further investigations.- - - - - - - - - - ranking = 0.2keywords = triploidy (Clic here for more details about this article) |
3/7. 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) |
4/7. 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) |
5/7. 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) |
6/7. triploidy caused by endoreduplication in a human zygote obtained after in-vitro fertilization.cytogenetic analysis of a presumably tripronuclear zygote revealed that triploidy was caused by an endoreduplicated 46,XX complement. The remaining chromosomes yielded a hyperhaploid karyotype of 28,Y, 2, 3C, D. The origin of this chromosomal composition is obscure. Besides endoreduplication in a normal 23,X oocyte pronucleus and fertilization by a normal 23,Y spermatozoon, an additional female pronucleus might have been formed due to an irregular chromosome distribution during second meiotic division. On the other hand, penetration by a hyperhaploid spermatozoon cannot be excluded with certainty.- - - - - - - - - - ranking = 0.2keywords = triploidy (Clic here for more details about this article) |
7/7. A non-trophoblastic tumor co-existing with a triploid fetus.Non-trophoblastic neoplasms are the most frequent, benign tumors of the placenta, occurring in approximately 1% of all placentas examined. A case is described of a 24-year-old woman who presented with severe, early-onset pre-eclampsia, high human chorionic gonadotropin (hCG) levels, and a triploid fetus and who was found to have a small choriohemangioma. The woman, gravida 2 para 1, was referred to our hospital for perinatal evaluation. The fetus, gestational age 18 weeks 3 days, had fetal growth restriction with multiple congenital anomalies. The fetal karyotype was 69,XXY. Compared with the normal range for this gestational age, the beta-hCG level was significantly elevated (1,054,000 mIU/ml) as was the maternal serum alpha-feto-protein measurement (539.1 ng/ml). Sonographically, the placenta appeared hydropic, irregularly shaped, and gelatinous. A suction dilatation and evacuation under sonographic guidance was performed. Histological examination of placental tissue revealed hydropic degeneration of the chorionic villi. The specific histological features of a partial molar pregnancy were not present. However, there were changes consistent with a choriohemangioma. Flow cytometric dna analysis performed on formalin-fixed, paraffin-embedded tissue blocks of placenta showed triploidy. Immunohistochemical staining with human placental alkaline phosphatase was consistent with a hydropic degeneration pattern. We conclude, first, that triploidy does not always imply the presence of a partial mole. Second, the dictum, that pre-eclampsia, if it occurs under 20 weeks' gestation, must be associated with a molar pregnancy, may not hold when placental aneuploidy is present. Although the findings in this pregnancy could have been incidental, there may be an association between a choriohemangioma and polyploidy.- - - - - - - - - - ranking = 0.4keywords = triploidy (Clic here for more details about this article) |