Disease relevance of Trisomy

• Malignant papillary renal carcinomas are characterized by trisomy of chromosomes 7, 16 and 17, and in men, by loss of the Y chromosome [1].
• Amyloid beta-protein (AP) is a peptide of relative molecular mass (Mr) 42,000 found in the senile plaques, cerebrovascular amyloid deposits, and neurofibrillary tangles of patients with Alzheimer's disease and Down's syndrome (trisomy 21) [2].
• 2 trisomy, and markers involving chromosome No. 2 were established from three 7,12-dimethylbenz[a]anthracene (DMBA)- and two N-butyl-N-nitrosourea (BNU)-induced erythroblastic leukemias in noninbred Long-Evans rats [3].
• Ultrastructural and microvillous enzyme (MVE) histochemical studies of fetuses with cystic fibrosis (CF) and trisomies 13 and 18 identified features in CF which differed from the abnormalities in trisomies 13 and 18 [4].
• The first demonstration of an autosomal dominant human disease caused by segmental trisomy came in 1991 for Charcot-Marie-Tooth disease type 1A (CMT1A) [5].

Psychiatry related information on Trisomy

• In humans, a third copy of DYRK1A is present in Down syndrome (trisomy 21) and has been implicated in the etiology of mental retardation [6].
• The establishment of the correct diagnosis in the first days of life is very important for the decision-making process, because trisomy 18 has a poor prognosis, and treatment is not instituted, whereas cholesterol supplementation may be of benefit to patients with Smith-Lemli-Opitz syndrome [7].
• In summary, demented patients with cobalamin/folate deficiency, trisomy 21 and human immunodeficiency virus (HIV) infection display a simultaneous downregulation of DNA and SAM synthesis, which may indicate a pathway common to the dementia seen in AD, DS and AIDS [8].
• Endogenous sodium-potassium ATPase inhibition related biochemical cascade in trisomy 21 and Huntington's disease: neural regulation of genomic function [9].
• In a series of 127 children diagnosed with autistic disorder the karyotypes of 8, on whom data were available, showed the following chromosomal abnormalities: breakage, a 47 XY pattern, trisomy 13, inversion-duplication of chromosome 15, 47 XY, +der (15) (pter q15: p11 pter), 47 XXY and 46 XY, inv (2) (p11:q13pat, 3q+) [10].

High impact information on Trisomy

• Studies in two related patients with a partial trisomy 18p revealed three copies of the PACAP gene and elevated PACAP concentrations in plasma [11].
• The present observation provides new impetus for studying synthesis and transport of myo-inositol as well as phosphatidylinositol cycle in trisomy 21 disorder [12].
• Quinacrine fluorescence analysis revealed that cells with No. 2 trisomy or either of two types of long No. 2 had total and partial No. 2 trisomy, respectively [13].
• CONCLUSIONS: Refractory celiac sprue is strongly associated with partial trisomy of the 1q region [14].
• Of 81 patients identified with a moderate increase (grade 2), 2 had trisomy 21 and 2 had CF [15].

Chemical compound and disease context of Trisomy

• Patients with Down's syndrome (DS) exhibit elevated activity of copper zinc superoxide dismutase (CuZnSOD) caused by the trisomy 21 state [16].
• METHOD: Regional cerebral glucose metabolism was assessed by means of positron emission tomography (PET) with [18F]fluorodeoxyglucose in eight younger (mean age = 35 years, SD = 2) and eight older (mean age = 50, SD = 7) healthy, nondemented adults with trisomy 21 Down's syndrome [17].
• Patients with isolated trisomy 8 in acute myeloid leukemia are not cured with cytarabine-based chemotherapy: results from Cancer and Leukemia Group B 8461 [18].
• Human skin fibroblasts from three different Down's syndrome patients (trisomy 21) of very different ages have been tested for their adhesion responses on tissue culture substrata coated with type I collagen, fibronectin (FN), and their combination after or during treatment of cells with cycloheximide to evaluate limitations in specific responses [19].
• Particularly striking effects of hydroquinone were observed in CD34(+) cells on monosomy 7 and trisomy 8, two common clonal aberrations found in myeloid leukemias, suggesting that these aneusomies produced by hydroquinone in CD34(+) cells play a role in benzene-induced leukemogenesis [20].

Biological context of Trisomy

• In the present study, a methylation difference near a polymorphism in the X-linked androgen-receptor gene was used to investigate the possibility that nonrandom X inactivation is increases in fetuses and newborns that are associated with confined placental mosaicism (CPM) involving an autosomal trisomy [21].
• Overall, our observations suggest that, at least for the sex chromosomes and for a combined set of autosomal trisomies, polymorphisms in the folate pathway are not a significant contributor to human meiotic nondisjunction [22].
• The most centromeric marker was nonreduced, indicating a meiosis I nondisjunction in 76.5% of maternally derived trisomies, and reduced, indicating a meiosis II nondisjunction in 76.9% of paternally derived trisomies, with no significant differences between groups [23].
• Through the control set of DNA fragments equally distributed over the genome, recurrent genomic imbalances were discovered: trisomy of chromosome 19 and gain of the MYCN oncogene correlating with an elevation of MYCN mRNA expression [24].
• Three congenital anomaly disorders, cat-eye syndrome, der() syndrome and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) are associated with tetrasomy, trisomy or monosomy, respectively, for part of chromosome 22q11 [25].

Anatomical context of Trisomy

• Place of amniotic fluid AFP in prenatal diagnosis of trisomies [26].
• When lymphocytes were enriched from kidney tumors and surrounding tissue by either Ficoll/Hypaque density gradient or immunomagnetic selection with anti-CD3, anti-CD4, or anti-CD8 monoclonal antibodies, it was confirmed that they contained a high percentage of trisomy 7 and trisomy 10 cells [27].
• Hematologic characteristics commonly found in these patients were dysplastic features of all bone marrow lineages, suggesting that trisomy 4-associated disorders involve the early myeloid hematopoietic stem cell [28].
• We confirm that in the MedB-1 mediastinal B-cell line, harboring a trisomy 9, JAK2 transcription is elevated and the product is highly phosphorylated [29].
• Red blood cell glucose metabolism was investigated in a male patient with de novo trisomy 10p [30].

Associations of Trisomy with chemical compounds

• Copper/zinc superoxide dismutase activity in trisomy 21 by translocation [31].
• In contrast, trisomy 8 developed in patients with good hematologic responses who often required chronic immunosuppression with cyclosporine A (CsA), and survival was excellent [32].
• Chromosome 6 exhibited a high frequency of trisomies and tetrasomies in the kidney after 5.0 months of estrogen treatment and in primary renal tumors [33].
• A high maximal dose, or cumulative dose of anthracycline, female sex, black race, presence of trisomy 21, and treatment with amsacrine increase the risk for anthracycline-associated cardiotoxicity [34].
• When exposed to gamma-rays or bleomycin in G0, trisomy 21 lymphocytes showed a 30% or, on average, 50% longer duration of cell turnover times, respectively, than normal cells; only bleomycin-treated trisomic cells had a biphasic dose-response [35].

Gene context of Trisomy

• We observed a significant increase in the MTHFR polymorphism in mothers of trisomy 18 conceptuses but were unable to identify any other significant associations [22].
• In the present report, we asked whether variation at MTHFR (677C-->T) or MTRR (66A-->G) might be associated with human trisomies other than trisomy 21 [22].
• As a test for the validation of this method, 10 coded blood DNAs from five normal controls and from five trisomy 21 patients were analyzed, by using two reference (COL1A1 and COL1A2) and two chromosome 21 (D21S11 and D21S17) probes [36].
• These findings suggest that acquired intrauterine inactivating mutations in GATA1 and generation of GATA1s cooperate frequently with trisomy 21 in initiating megakaryoblastic proliferation, but are insufficient for progression to AMKL [37].
• High expression of CLLU1 in CLL samples occurred irrespective of trisomy 12 or large chromosomal rearrangements [38].

Analytical, diagnostic and therapeutic context of Trisomy

• RNA gel blot analysis and in situ hybridization showed a marked increase in amyloid precursor protein mRNA in the trisomy 16 mouse head and brain when compared with euploid littermates or with trisomy 19 mice [39].
• Quantitative characterization and alpha 1-antitrypsin (alpha 1AT) Pi phenotyping by isoelectric focusing (IEF) and immunofixation electrophoresis (IFE) were done on 84 patients with trisomy 21, divided into two groups, and on their parents [40].
• The mean value for glutathione reductase activity in the red cells of four patients with trisomy 8 was significantly higher (2980 +/- 940 mumoles/min/liter of erythrocytes) than in normal controls (1930 +/- 360) or in any of five different control groups of patients with hematologic disorders [41].
• Mouse trisomy 16 as an animal model of human trisomy 21 (Down syndrome): production of viable trisomy 16 diploid mouse chimeras [42].
• The patient is trisomic for the short arm and secondary constriction of the long arm of No. 9 and for the telomeric end of the long arm of No. 7. In addition to the features of the 9p trisomy syndrome he presents marked congenital myopia and extreme hypoplasia of the penis [43].

References