1/16. Familial cryptic translocation with del 4q34-->qter and dup 12pter-->p13 in sibs with tracheal stenosis: clinical, classical and molecular cytogenetic studies and CGH analyses from archival placental tissues evidencing tertiary trisomy 4 in one abortion specimen.We report on two retarded half-sibs of different sex and seemingly normal karyotype who had the same syndrome of minor anomalies, heart defect and a distal tracheal stenosis, and who shared a healthy mother. These findings raised suspicions of a cryptic chromosome translocation. A translocation t(4;12)(q34;p13), balanced in the mother and unbalanced in the sibs with loss of terminal 4q and gain of terminal 12p regions, was verified by FISH using whole chromosome painting, subtelomeric and YAC probes. Clinical features could be explained by partial monosomy 4q and partial trisomy 12p. tracheal stenosis was interpreted as a consequence of the same developmental disturbance leading to esophageal atresia and tracheo-esophageal fistula. It was attributed to the 4q deletion in which esophageal atresia as also respiratory difficulties and airway obstructions had been described. paraffin-embedded placental tissues were available from three of the five abortions of the mother allowing DNA extraction and comparative genome hybridization (CGH). Two of the abortion specimens had the same der(4)t(4;12)(q34;p13) unbalanced translocation as identified in the sibs. In the third abortion specimen, suspicious of triploidy because of partial hydatidiform mole, CGH uncovered a tertiary trisomy 4 resulting from a 3:1 segregation of the translocation chromosomes and their homologs during maternal meiosis I. Differences in CGH results using DNA generated directly or after DOP-PCR were explained by dna fragmentation in paraffin-embedded tissues and unequal amplification. Am. J. Med. Genet. 94:271-280, 2000.- - - - - - - - - - ranking = 1keywords = triploidy (Clic here for more details about this article) |
2/16. 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 = 4keywords = triploidy (Clic here for more details about this article) |
3/16. prenatal diagnosis of mosaicism for triploidy and trisomy 13.mosaicism for trisomy 13 and triploidy was detected by amniocentesis performed at 18 weeks' gestation because of fetal anomalies. pregnancy continued and a live-born male was delivered vaginally at 37 weeks. The infant had features common to both trisomy 13 and triploidy: intrauterine growth retardation (IUGR), small abnormal ears, cleft palate, and a small jaw. In addition, he had complete cutaneous syndactyly of fingers 3 and 4 and partial syndactyly of the toes, as seen in triploidy. Mixoploidy for trisomy 13 and triploidy was confirmed postnatally in blood, skin, and placenta. Examination of chromosome heteromorphisms and DNA markers suggested the presence of two maternal contributions in the triploid cell line. In addition, the extra chromosome 13 in the trisomic cell line was derived from the mother.- - - - - - - - - - ranking = 8keywords = triploidy (Clic here for more details about this article) |
4/16. Second trimester maternal serum analytes in triploid pregnancies: correlation with phenotype and sex chromosome complement.Second trimester maternal serum alpha-fetoprotein (MS-AFP), human chorionic gonadotrophin (hCG), unconjugated estiol (uE3), and inhibin-A (INH-A) levels were evaluated in pregnancies complicated by triploidy. In addition to seven new triploid pregnancies, the results for 67 published cases were reviewed. All cases appear to fall into two major groups. First, those identifiable as screen-positive for both down syndrome and an open neural tube defect (ONTD) with elevated MS-AFP, grossly elevated hCG, low/normal uE3, and probably elevated INH-A. Pregnancies in the second group are identifiable as screen-positive for trisomy 18 with low/normal MS-AFP, and very low hCG, uE3 and INH-A. Triploid pregnancies with high maternal serum hCG nearly always show a placenta with partial mole (25/27 or 93%), a high frequency of ONTDs or ventral wall defects (VWDs) (8/28 or 29%) and have either an XXX or XXY karyotype (observed ratio 6:10, respectively). Low hCG is infrequently associated with a molar placenta (1/11 or 9%), does not appear to be associated with ONTDs or VWDs (0/29 or 0%), and shows an excess of XXX over XXY karyotypes (observed ratio 17:2). There were 16 cases with either a molar placenta, an ONTD or a VWD that received the MS-AFP and hCG tests. All 16 were screen-positive for an ONTD (MS-AFP> or =2 multiples of the median). In addition, all 31 cases that received MS-AFP, hCG, uE3 (and where available INH-A) were screen-positive for either down syndrome or trisomy 18. The findings are discussed in the context of expected differences between digynic and diandric triploidy. It is suggested that the sex chromosome complement in triploidy is an important factor in determining risk for partial mole development and in utero survival.- - - - - - - - - - ranking = 3keywords = triploidy (Clic here for more details about this article) |
5/16. Triploid pregnancy detected incidentally by Down's syndrome screening.Maternal serum screening for Down's syndrome and trisomy 18 identifies pregnancies with a greater risk of these abnormalities, which are then followed-up by karyotyping of cells collected either by amniocentesis or by chorionic villus sampling. These techniques complement ultrasonography, which gives accurate gestational dating as well as identifying structural abnormalities. Other chromosomal abnormalities are sometimes detected by virtue of atypical maternal screening results. This report illustrates a case of triploidy, a lethal abnormality, detected incidentally due to an exceptionally high human chorionic gonadotrophin result identified during Down's syndrome screening. This allowed appropriate counselling of the parents followed by a decision to terminate the pregnancy, avoiding the potential trauma of a spontaneous miscarriage or, if born live, death of the baby. Termination of the pregnancy also resolved associated maternal hyperthyroidism.- - - - - - - - - - ranking = 1keywords = triploidy (Clic here for more details about this article) |
6/16. 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 = 1keywords = triploidy (Clic here for more details about this article) |
7/16. 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 = 1keywords = triploidy (Clic here for more details about this article) |
8/16. First-trimester screening for fetal triploidy at 11 to 14 weeks: a role for fetal biometry.OBJECTIVE: Intrauterine growth restriction in triploidy has been reported as early as in the first trimester. This study was undertaken to evaluate the ability of first-trimester crown rump length (CRL)-based charts to detect triploid fetuses. MATERIAL AND methods: Analysis of fetal biometry in cases of triploidy diagnosed in the first trimester over the last three years. biometry for abdominal circumference (AC), head circumference (HC) and biparietal diameter (BPD) was analyzed in relation to both gestational age (GA)-based charts and to CRL-based charts. RESULTS: Five cases of fetal triploidy were diagnosed at 11 to 14 weeks. Screening based on nuchal translucency (NT) and maternal age showed a risk > 1/300 in only one of the 5 cases of triploid fetus. In all of these five cases, CRL-based biometry was grossly abnormal, although it was abnormal in only two of these five cases in relation to GA-based charts. CONCLUSION: First-trimester CRL-based biometry charts seem to reflect early asymmetrical growth delay in triploidy more accurately than GA-based charts. CRL-based biometry is likely to improve the early detection of triploid pregnancies without leading to dating error.- - - - - - - - - - ranking = 8keywords = triploidy (Clic here for more details about this article) |
9/16. Failure of selective termination and dexamethasone rescue therapy to arrest hellp syndrome in a midtrimester triplet gestation with one triploid fetus.We present a case of a patient with a triplet pregnancy at 22 weeks with one triploid fetus (69XXX) who developed severe preeclampsia that did not reverse with dexamethasone rescue therapy and selective termination. With multiple gestations on the rise and the early diagnosis of abnormal pregnancies being accomplished through ultrasound, serum markers, and invasive procedures, the question remains if there is a point in gestation before which selective termination of an abnormal fetus would allow the pregnancy to continue without preeclampsia developing or progressing. Appropriate counseling as to the maternal risk in cases of trisomy 13 or triploidy is essential as early in pregnancy as possible.- - - - - - - - - - ranking = 1keywords = triploidy (Clic here for more details about this article) |
10/16. Near-triploid myeloblastic transformation of chronic myeloid leukemia with bizarre blast morphology.We describe a case of chronic myeloid leukemia (CML) in myeloblastic transformation in which near-triploidy with complex karyotypic abnormalities occurred together with unusual blast morphology. A review of the literature shows that near-triploidy is extremely unusual in blastic transformation (BT) of CML.- - - - - - - - - - ranking = 2keywords = triploidy (Clic here for more details about this article) |
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