Cases reported "Down Syndrome"

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1/354. A trisomic germ cell line and precocious chromatid segregation leads to recurrent trisomy 21 conception.

    A chromosomally normal 37-year-old woman was referred for preimplantation genetic diagnosis after having several conceptuses with trisomy 21. Segregation of chromosome 21 was assessed in unfertilised meiosis II oocytes and preimplantation embryos from PGD cycles using fluorescent in situ hybridisation (FISH). Of 7 preimplantation embryos, 5 were chromosomally abnormal with 4 having trisomy 21 and one being tetraploid. Of 4 oocytes, 3 had an abnormal chromosomal constitution with either an extra chromosome 21 or an extra chromatid 21. In one oocyte an extra chromatid 21 was detected in both the metaphase II complement and the first polar body providing the first direct evidence of a maternal trisomic germ cell line. Moreover, this result shows that the extra chromosome 21 can precociously divide into its two chromatids at the first meiotic division.
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2/354. 'Identical' twins with discordant karyotypes.

    A chromosomal abnormality in one of the fetuses of a monozygotic twin pregnancy is a rare phenomenon. In the prenatal unit of our cytogenetics laboratory we have recently come across two such heterokaryotypic twin pregnancies. In both cases ultrasound abnormalities were detected in one fetus of each twin pair. Chromosomal analysis showed that one twin pregnancy was discordant for trisomy 21 and the other for 45,X. Ultrasonographic examination suggested a monochorionic twin pregnancy in each case and dna studies confirmed that both sets of twins were monozygotic. Both pregnancies were terminated. Biopsies taken from different sites of the placentas showed chromosomal mosaicism in both cases. There was no clear correlation between the karyotype found close to the site of the umbilical cord insertion in the placenta and the karyotype of the fetus. Sampling of amniotic fluid from both sacs is recommended in diamniotic twin pregnancies if one (or both) of the fetuses has ultrasound abnormalities, even if the twins are apparently monochorionic.
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3/354. trisomy 21 associated transient neonatal myeloproliferation in the absence of Down's syndrome.

    Although usually associated with Down's syndrome, transient neonatal myeloproliferation (TMD) can occur in the absence of a constitutional trisomy 21. This report describes two such cases, both of whom had a trisomy 21 restricted to clonal cells. Unlike in previous such reported cases, spontaneous morphological, cytogenetic, and molecular remission in both cases was followed by re-emergence, in one case, of an evolved clone with a more malignant phenotype which required pharmacological intervention. awareness that trisomy 21 bearing leukaemia in the neonatal period can be transient even in the absence of Down's syndrome is important to prevent unnecessary treatment. Equally, such cases require indefinite follow up as a proportion may have a recurrence which may require treatment.
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4/354. Altered clearance of theophylline in children with down syndrome: a case series.

    down syndrome (DS) is a common cause of mental retardation resulting from trisomy 21. Previous reports have described altered pharmacokinetics and pharmacodynamics in patients with DS. The authors report six cases of infants (2-19 months) with DS who demonstrated altered theophylline pharmacokinetics. Clearance was prolonged in most of these patients. No overt toxicity to theophylline was noted in any of the cases. The authors propose that patients with DS are at increased risk for altered theophylline pharmacokinetics. The etiology for altered pharmacokinetics of theophylline may be due to the interface between normal developmental changes and pharmacogenetic differences associated with DS and/or the secondary disease states and concomitant drug therapy.
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5/354. trisomy/tetrasomy 21 mosaicism in CVS: interpretation of cytogenetic discrepancies between placental and fetal chromosome complements.

    trisomy/tetrasomy 21 mosaicism was found in chorionic villi (semidirect preparation) obtained from a 40 year old pregnant woman. Since both cell lines were abnormal, the couple elected for pregnancy termination. placenta and fetal tissue samples were obtained for cytogenetic study. Long term cultured villi showed a non-mosaic trisomy 21 karyotype, while other tissues showed either a normal karyotype or normal/trisomy21 mosaicism. These discrepancies could be explained by a modified "bottle neck" embryogenic model with a trisomic zygote and a non-disjunction event taking place in one of the first divisions. Our case emphasises the need for confirmatory studies in other tissues when mosaicism is encountered in chorionic villi, even if all cell lines are abnormal.
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6/354. prenatal diagnosis of Down's syndrome in the presence of isolated Ebstein's anomaly.

    Ebstein's anomaly is a rare congenital cardiac defect, characterized by the displacement of the tricuspid valve into the right ventricle, that occurs approximately once in 20,000 live births. The association of Ebstein's anomaly and chromosomal abnormalities, such as Down's syndrome, is extremely unusual. prenatal diagnosis of trisomy 21 in a fetus with isolated Ebstein's anomaly has not been previously reported.
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7/354. A case of Down's syndrome associated with progressive extradural neuroblastoma.

    We describe a case of Down's syndrome associated with progressive extradural neuroblastoma. Postmortem aspiration of the bone marrow revealed diffuse infiltration by tumor cells, in which trisomy 21 was found by fluorescence in hybridization in situ.
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8/354. tuberous sclerosis with intracardiac rhabdomyoma in a fetus with trisomy 21: case report and review of literature.

    A large cardiac rhabdomyoma protruding into the left ventricle was diagnosed in a fetus at 21 2 weeks of gestation by grey-scale echocardiography. Obstruction to left ventricular outflow was ruled out by colour and spectral Doppler echocardiography. No other abnormalities were noted and karyotyping by cordocentesis revealed trisomy 21 (47,XY, 21). Post-mortem examination after termination of pregnancy confirmed the prenatal diagnosis of cardiac rhabdomyoma and in addition revealed fetal tuberous sclerosis. Demonstration of cardiac rhabdomyoma by prenatal ultrasound should raise suspicion of the presence of fetal tuberous sclerosis. Despite the incidental association with aneuploidy, fetal karyotyping is suggested for optimal counselling of parents.
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9/354. Variable levels of mosaicism for trisomy 21 in a non-immune hydropic infant with chylothorax.

    We report the first case of mosaic trisomy 21 with non-immune hydrops fetalis and bilateral chylothoraces. Prenatal fetal blood karyotype analysis of 15 fetal cells revealed a 46,XX karyotype. Aggressive prenatal management, including fetal thoracocentesis and pleuro-amniotic shunt, was performed. A clinical phenotype of down syndrome was apparent after the gross oedema had subsided. Subsequent chromosome study of neonatal blood lymphocytes showed mosaic trisomy 21 with 23 per cent trisomic cells. review of the initial fetal blood sample identified trisomy in 5 per cent of 134 cells. Follow-up study at five months showed no trisomy 21 in 100 cells. This case illustrates the variable levels of mosaicism manifest in the peripheral blood of an infant with obvious down syndrome phenotype, and the limitation of cytogenetic analysis of peripheral lymphocytes alone in prenatal and postnatal detection of low levels of mosaicism.
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10/354. Prenatal ultrasound detection of congenital cataract in trisomy 21.

    A 45-year-old woman underwent serial ultrasound screening procedures during late first and second trimesters of pregnancy for advanced maternal age. Cultured amniocytes karyotype indicated full trisomy 21. Subsequently, the fetus developed congenital cataract diagnosed at 24 weeks. This is the first antenatal diagnosis of this complication of down syndrome.
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