1/5. 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) |
2/5. 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) |
3/5. MCA/MR syndrome in a female infant with tetraploidy mosaicism: review of the human polyploid phenotype.We report on a 3-month-old girl with unusual facial appearance, short neck with low posterior hairline, wide chest, valvular pulmonic stenosis, abnormal fingernails, and diploid-tetraploid mosaicism (46,XX/92,XXXX in 7.2% of peripheral leucocytes and in 29% of skin fibroblasts). Comparison with 11 previously reported cases with mosaic or complete tetraploidy does not establish an easily recognizable syndrome. However, a malformation pattern is apparent when tetraploidy patients are compared with 14 cases of triploid mosaicism and 44 previously reported cases of nonmosaic triploidy. A history of sex hormone exposure was present in 5 of 11 pregnancies resulting in tetraploidy; this exposure may correlate with the occurrence of tetraploidy in polycystic ovary syndrome and in tumors of the female reproductive tract. The mechanism of dysmorphogenesis involved in polyploidy is considered, including hypotheses of altered nuclear/cytoplasmic ratio, of trophoblastic alteration, of delayed cell division, or of altered autosome/active x chromosome ratio.- - - - - - - - - - ranking = 0.2keywords = triploidy (Clic here for more details about this article) |
4/5. Placental changes in fetal triploidy syndrome.The sonographic findings in fetal triploidy syndrome include intrauterine growth retardation, hydrocephalus, oligohydramnios, and hydropic changes of the placenta. ultrasonography can establish the diagnosis only when placental findings coexist with a fetus. Although the majority of triploid conceptions abort spontaneously in the first trimester, occasionally they will progress further, but rarely to term. Six cases are presented in which the diagnosis was suspected by early ultrasound examinations, including one case in which there was an unusually large trophoblastic cyst. Determination of the karyotype is important for the management of a pregnancy with a live fetus, and has implications for genetic counseling of subsequent pregnancies.- - - - - - - - - - ranking = 1keywords = triploidy (Clic here for more details about this article) |
5/5. Antenatal ultrasound findings in fetal triploidy syndrome.Although commonly encountered in spontaneous abortions, triploidy is rarely seen in fetuses surviving beyond mid-pregnancy. Mid-trimester sonographic findings in three triploid fetuses are described and compared with those reported in six prior cases. While sonographic characteristics are variable, common features include: 1) second trimester-onset fetal growth retardation with a reduced growth potential pattern of anthropometric growth, 2) body asymmetry with relative macrocephaly and an elevated head:abdominal circumference ratio, 3) hydrocephalus, 4) oligohydramnios, and 5) an abnormally large and/or hydropic placenta (in cases of paternal origin). Genetic amniocentesis and amniotic fluid chromosome studies should be performed when ultrasound findings suggestive of fetal triploidy are identified.- - - - - - - - - - ranking = 1.2keywords = triploidy (Clic here for more details about this article) |