trisomy

..When compared with previously reported cases, the proband had characteristics common to the phenotypes of partial trisomy 12q, including an abnormal facial appearance and multiple anomalies...

b>Trisomy 4 mosaicism is extremely rare: herein we report the cytogenetic and molecular characterization and prenatal US findings of a case diagnosed prenatally...

We present a case of a liveborn male with complete trisomy 1q in mosaic form due to a de novo unbalanced translocation...

..in the genetic dissection of the learning, behavioral, and neurological abnormalities associated with segmental trisomy for the region of mouse chromosome 16 homologous with the so-called "Down syndrome region" of human ..

Mental retardation in Down syndrome (DS), the most frequent trisomy in humans, varies from moderate to severe...

..The allelic ratios were compared between pregnancies carrying trisomy 18 and euploid fetuses...

..Nevertheless, the high plating efficiency of trypsin passaged hESCs is a reversible phenotype, regardless of chromosomal abnormalities, suggesting that epigenetic events are responsible for the switch in phenotype...

A female patient with a partial trisomy 16q was described previously...

..The stage is now set for studies to decipher the gene(s) that play a conspicuous role in creating these phenotypes...

..The most frequent chromosome changes in hESC cultures are trisomy 12 and trisomy 17...

..Down syndrome (DS), a disorder caused by the presence of three copies of chromosome 21 (trisomy 21), is characterized by impairments in learning and memory attributable to dysfunction of the hippocampus...

..Therefore, we investigated frequently occurring chromosomal abnormalities in 21 independent fetal-derived hNPC lines and the possible mechanisms triggering such aberrations...

b>Trisomy 8 mosaicism can present with a wide variety of systemic and ophthalmologic manifestations...

..FISH studies showed partial trisomy 7p resulting from a de novo unbalanced translocation...

..Most t(3;14)(p14.1;q32) + MALT lymphomas harbored additional genetic abnormalities, such as trisomy 3. Further studies revealed that the three known translocations and t(3;14)(p14.1;q32) are mutually exclusive...

..Expression also correlated with trisomy 12 and chromosome 19 abnormalities but was not limited to cases with the t(14:19)(q32;q13)...

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..In this study, we derived a fluorescent in situ hybridization (FISH)-based trisomy index from pooled cytogenetic data (karyotype analysis) from 2 large cohorts of patients with MM with abnormal ..

..The child was treated because of skeletal defects, mild mental deficiency and dysmorphic features of face. Chromosomal analysis showed a trisomy 8 mosaicism.

b>Trisomy 18 is a disorder characterized by psychomotor disabilities, dysmorphic features and organ malformations, including mental disabilities, growth deficiency, poor motor ability, micrognathia, microcephaly, low-set and malformed ears,..

..Linkage studies have associated abnormal patterns of meiotic recombination to the origin of the non-disjunction event in many aneuploid conditions...

..It was associated with a phenotype including cardiac defect, absence of septum pellucidum, and dysplasia of the corpus callosum...

Partial trisomy 2p syndrome includes a spectrum of congenital heart disease (CHD) that is characterized by complex malformations of the outflow and inflow tracts, defects in cardiac septation, heart position, as well as abnormal ..

Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome: We report on a girl with a mosaic karyotype containing a supernumerary ring chromosome...

..Combining the results of GTG- and C-banding analysis with the results of the (micro)FISH, we concluded that the patient's karyotype is: mos 47,XX,+mar.rev ish der(8)(p22 --> pter)[50]/46,XX[50]...

..studies using cytogenetic and FISH studies showed that this additional material resulted in a 15q25-qter trisomy and confirmed the presence of three copies of the insulin-like growth factor 1 receptor (IGF1R) gene, included in ..

..Bone marrow chromosome changes were present in both: trisomy and tetrasomy 8 (with a pericentric inversion of one chromosome 8) in the older sister, and monosomy 7 (with ..

..We found that trisomy 12 was correlated with changes in hESC colony morphology during hESC maintenance...

..5, 10.8, and 1.6% of the cases; trisomy 3 and/or 18 occurred in 42.1%...

..A high resolution G-band karyotype also showed in Case II and III an abnormal chromosome 22, studied by FISH techniques which confirmed a der(22)t(12;22)(q24.3;q13.3) in both cases...

Partial trisomy 1q syndrome is a rare chromosomal abnormality. We report on a male infant with 46,XY,der(11)t(1;11)(q41;p15.5) due to unbalanced segregation of the maternal reciprocal balanced translocation 46,XX,t(1;11)(q41;p15.5)...

..We report on the clinical and cytogenetic findings of a newborn baby with partial trisomy 10q22-10q24 due to a maternal insertional translocation 15;10...

The characteristic clinical features of constitutional trisomy 8 include varying degrees of developmental delay, joint contractures and deep palmar and plantar creases...

11q trisomy is associated with a recognizable pattern of multiple malformations...

b>Trisomy 13 occurring as a single cytogenetic abnormality has been associated with undifferentiated or biphenotypic acute leukemias and with an adverse prognostic outcome...

..The aim of this study was to determine the clinical characteristics of Behcet's disease (BD) associated with bone marrow failure (BMF), classified as conditions such as myelodysplastic syndrome (MDS) or aplastic anaemia (AA), in Korea...

..GI B cell non-Hodgkin lymphomas lacking this translocation vary in their biology and clinical outcome. The t(11;18) negative subgroup shows increased numerical changes of chromosome 18, although its clinical relevance remains unknown...

..b>Trisomy 8, a frequent molecular alteration in neoplasia, is seen in several soft tissue sarcomas, including Ewing sarcoma/..

..Both of them carried a 15q25.1-qter trisomy associated with a subtle 13qter monosomy resulting from unbalanced segregation of a familial t(13;15)(q34;q25...

Tertiary trisomy, or double trisomy, is a rare occurrence. We present two individuals with a previously unreported tertiary trisomy for chromosomes 5p and 21q in an eight-generation pedigree...

..We studied the expression of bcl-2 protein and the possible simultaneous occurrence of bcl-2 overexpression, trisomy 12 and the Rb1 and p53 gene deletions in 38 patients with B-CLL by combining immunophenotyping and dual color ..

..A partial trisomy 3 (bands 3q11-29) and overexpression of Bcl-2 without t(14;18) translocation was detected in the monoclonal B ..

..using fluorescence in situ hybridization (FISH) confirmed that the extra chromosomal material represented partial trisomy 7p...

It has been suggested that the increased neuronal death in cultures from trisomy 16 (Ts16) mice, a model of Down's syndrome, might result from a diminished concentration of reduced glutathione (GSH)...

An 8-year-old boy with partial trisomy 14q and phenotype distinct from previously reported cases is described. The mother carries a balanced 9;14 reciprocal translocation...

b>Trisomy 8 as the sole abnormality is the most common karyotypic finding in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS), occurring in approximately 5% and 10% of the cytogenetically abnormal cases, respectively...

..of an unbalanced translocation between the X-chromosome and chromosome 16, resulting in monosomy for Xp and trisomy for 16q. Only a handful of partial trisomy 16q cases have been reported in the literature among liveborns...

This case report presents the dental management of a 13-year-old girl with mosaic trisomy 9...

..A clonal karyotypic abnormality characterized by trisomy 8 was demonstrated by cytogenetic analysis...

This study represents a first effort to characterize the growth and development of murine trisomy 16 neurons using single-cell neuron culture techniques. Murine trisomy 16 is a model for the human Down syndrome, or trisomy 21...

..To report on the clinical and metabolic characteristic and the unique chromosomal defect of a mentally retarded and morbidly obese patient...

..In human trisomy 13, there is delayed switching and persistence of fetal hemoglobin (HbF) and elevation of embryonic hemoglobin in ..

..These developments have been translated into many novel genetic, epigenetic and gene-expression markers, and are expected to have a fundamental impact on the future practice of prenatal diagnosis...

This clinicopathologic case report documents severe gingival recession in the primary dentition of a trisomy 18 patient...

The mechanism of trisomy formation and its relationship to increased maternal age is not understood...

We report on a familial partial trisomy 12q in a girl and her father both of whom have an unbalanced translocation, der(16)t(12;16)(q24.31;q24.3), resulting in trisomy 12q24.31 --> qter and 16q subtelomere deletion...

..To test this hypothesis, we investigated superoxide formation in cultured hippocampal neurons from diploid and trisomy 16 mice (Ts16), a model of Down's syndrome...

..A 57-year-old man was diagnosed as having acute monoblastic leukemia with t(9;11)(p22;q23) and trisomy 8...

The prognosis of trisomy 18 is lethal, but recently some long-term survival cases have been recognized. We report here the mortality rate of trisomy 18 based on our hospital data and sporadically published reports in Japan...

..Donepezil administration did not modify learning and memory in animals of any genotype. On the other hand, PTZ administration rescued TS performance in the Morris water maze...

Although trisomy 8 as the sole chromosome aberration is the most common numerical abnormality in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS), little is known about its pathogenetic effects...

To present the prenatal diagnosis case of pure trisomy 1q21-qter with translocation to chromosome Y in all cells analysed.

..abnormalities consistent with a Wolf-Hirschhorn syndrome (WHS) diagnosis, clinical manifestations of partial 4p trisomy being mild...

We present a case of de novo trisomy of distal 19q diagnosed prenatally by cytogenetics and FISH analysis...

Few reliable data exist concerning the recurrence risk for individual trisomies or the risk for recurrence of trisomy for a different chromosome...

A case of prenatally detected partial trisomy 15 and 16 is reported. Amniocentesis was performed at 14 weeks' gestation because a 6-mm nuchal translucency was detected on a dating ultrasound evaluation...

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We report the case of a patient (followed from birth to 15 years) presenting with trisomy 12 mosaicism, and focus on the endocrine phenotype associating a pituitary malformation and ovarian abnormalities...

..We were able to demonstrate an unbalanced translocation that the patient inherited from his father resulting in a submicroscopic monosomy 16p13.3 and a trisomy 2p24.2-pter.

..1; q12.12). The child had the majority of trisomy 1q clinical features: dysmorphic features, micropthalmia, high arched palate, long philthrum, micrognathia, ..

We report here two iniencephaly fetuses with chromosome mosaicism. The first fetus (22 weeks) was male with mosaic trisomy 13, and the second fetus (24 weeks) was female with mosaic monosomy X...

..he also suffered from congenital hydrocephalus and hypogammaglobulinemia, which have not been described in trisomy 1q syndrome...

QF-PCR can be used to rapidly diagnose primary trisomy in prenatal samples...

..We present the cytogenetic, molecular, and clinical data of this patient and compare our results with those of patients with dup(17)(p11.2p11.2) syndrome and other patients with SMC(17)...

To determine the long-term outcome of pregnancies prenatally diagnosed with trisomy 16 and identify variables associated with the outcome.

..To present the prenatal diagnosis and molecular cytogenetic analysis of a fetus with nuchal cystic hygroma and ambiguous genitalia...

..We report on a fetus with radiographic features of Larsen Syndrome (LS) and unbalanced 3;5 translocation. Recently LS was shown to be caused by mutations in FLNB gene which maps on 3p14.3...

..We describe this child at 2 months of age with a follow up at 4 1/2 years, exhibiting a mixed clinical picture with features of both 18p- and partial trisomy 16p13.3.

..the origin and mechanisms of formation of isochromosomes 13q and 21q in instances where prenatal chromosome examination revealed a normal karyotype while postnatal chromosome examination from blood showed translocation trisomy 13 and 21.

..Findings of this mosaic chromosomal karyotype have not been previously described. This report will discuss this individuals physical findings and their relation to similar monochromosomal aberrations...

..This paper should assist clinicians and cytogeneticists when evaluating patients with BMR syndrome...

..To clarify whether this enlargement was due to a heteromorphism or to a cryptic chromosomal trisomy, so-called cenM-FISH probe sets containing a microdissection-derived probe specific for the acrocentric human p-..

..RESULTS: Microarray CGH showed a deletion of distal 9p and a trisomy of distal 17q. These results were confirmed by FISH analyses...

We report on the phenotypic features of a patient with partial trisomy of the long arm of chromosome 16 due to an unbalanced Y;16 translocation (46,X,der[Y]t[Y;16] [q12;q22]pat)...

..46,XX,del(9)(p23)[54]/46,XX,der(9)t(1;9)(q41;p23)[46], indicating the presence of monosomy 9p23 in all cells and trisomy 1q41 in approximately 50% of the cells...

We report a 10-years-old female patient with a partial trisomy 18q and monosomy 11q due to a maternal translocation...

..and (12;21) were ascertained through a balanced carrier, whereas the t(9;13) was first diagnosed in a boy with a trisomy 9p syndrome and der(9p13p). Results of FISH analyses with the appropriate ?-satellite probes were as follows...

..Four percent of the cells with trisomy 15 was found in the peripheral blood lymphocytes examined by classical cytogenetic technique and interphase FISH ..

..Routine chromosome analysis was carried out as well. RESULTS: A prenatal case with partial trisomy 21 due to a paternal cryptic insertion (4;21) was ascertained by a rapid overnight FISH on uncultured amniotic ..

..Based on our proband's abnormal karyotype, we suggest that further mapping studies for the syndrome should also be directed towards the chromosome X segments present on the derivative chromosome 2 of our proband...

..Further studies are required to determine whether similar results could be obtained in district general hospital units and to determine whether this approach would be acceptable to health professionals and patients...

..As amniocentesis and cordocentesis materials revealed X chromosome mosaicism, trisomy 7 was detected in the skin fibroblast culture of the ex fetus and karyotype evaluated as composite; 46~47,X,+7,-X[..

..WHS is caused by a deletion of 4p16, while Patau syndrome is caused by trisomy for some or all regions of chromosome 13...

..We determined the physical order of five satellite III subfamilies on 14p, and investigated their involvement in formation of these de novo translocations...

We report on a 28-year-old man with trisomy 7q34-qter and monosomy 15q26.3-qter caused by a paternal balanced chromosomal translocation, t(7;15)(q34;q26.3)...

..In cases where viable offspring are produced, mental and morphological defects such as those seen for Trisomy 21 or Turner syndrome (XO) are observed...

..defects in which can lead to infertility as well as to aneuploidy - commonly found in birth defects like trisomy (e.g. Down's syndrome) and in transitions to cancer...

..If C21ORF57 proves to contribute to the pathology of trisomy 21, an inhibitor of C21ORF57 could be the first drug to treat Down syndrome. Work on S...

..proposal, we provide our preliminary evidence that Notch signal is dysregulated in the lymphatic system of human trisomy 21 Down syndrome fetuses and their mouse model, trisomy 16 mice embryos that exhibit NE...

..proposal, we provide our preliminary evidence that Notch signal is dysregulated in the lymphatic system of human trisomy 21 Down syndrome fetuses and their mouse model, trisomy 16 mice embryos that exhibit NE...

..Failures in meiotic chromosome segregation in humans lead to infertility and birth defects such as Trisomy 21, the leading cause of mental retardation in the United States...

..Failures in meiotic chromosome segregation in humans lead to infertility and birth defects such as Trisomy 21, the leading cause of mental retardation in the United States...

..With respect to the role of trisomy 21 in AMKL, we discovered that the most widely used mouse model of DS, Ts65Dn mice, develop a myeloproliferative ..

..delineated five prognostically significant chromosomal aberrations: del13q14 (about 50%), del11q22-q23 (~10%), trisomy 12 (~15-20%), del17p13 (~5-7%) and del6q21...

..With respect to the role of trisomy 21 in AMKL, we discovered that the most widely used mouse model of DS, Ts65Dn mice, develop a myeloproliferative ..

..With respect to the role of trisomy 21 in AMKL, we discovered that the most widely used mouse model of DS, Ts65Dn mice, develop a myeloproliferative ..

The most common human aneuploidy is complete or partial trisomy of human chromosome 21 (HSA21), which results in Down Syndrome (DS). Trisomy 21 occurs at a frequency of 1 in 43 spontaneous abortions and 1 in 750 live births...

b>Trisomy 21, Down syndrome (DS), affects approximately 400,000 people in the U.S., causing cognitive disability, which includes the neuropathology of Alzheimer's disease and late-life dementia...

The development of individuals with trisomy 21/ Down Syndrome (DS) is characterized by delayed cognitive development in infancy and childhood leading to mild to moderate mental retardation, followed by a deterioration of cognitive ..

..wall and in anchoring as well as floating villi in normal placental specimens and placental tissues carrying a trisomy 21...

Tau missplicing caused by RNA processing proteins located on chromosome 21 Trisomy 21 (Down syndrome, DS), the most common chromosomal disorder (incidence of about 1:800), results in morphological defects, mental retardation and early-..

..In cases where viable offspring are produced, mental and morphological defects such as those seen for Trisomy 21 (Down's syndrome) are observed...

The broad, long-term objective of the proposed research is to define the consequence of trisomy 21 (Down syndrome) on transcription (gene expression) and translation...

..Examples of such diseases include the well known Down's Syndrome which is trisomy 21 and is associated with mental retardation, and multiple variegated aneuploidy (MVA) that shows a range of ..

..The second implicates maternal mosaicism as the cause of the HSXI and recurrent trisomy. We propose a third hypothesis: X-chromosomal defects lead both to HSXI and to an increase in trisomy due to ..

Down syndrome (DS) is caused by trisomy for human chromosome 21 (HSA21)...

Down syndrome (DS) is caused by trisomy for human chromosome 21 (HSA21)...

GENOMIC APPROACHES TO ANEUPLOIDY Down syndrome (DS) is caused by trisomy for human chromosome 21 (HSA21)...