Chromosome 21
Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant
... Most congenital complex chromosomal structural var- iations occur de novo. The origins of chromoanagenesis are still unknown; given its occurrence in both congeni- tal disorders and cancer, the initiating event can occur ...
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A single locus on human chromosome 21 directs the expression of a receptor for adenovirus type 2 in mouse A9 cells.
... human chromosome 21 and that the human Ad2 receptor protein is expressed in functional form on A9-21 and E7b ...human chromosome 21 may be a ...human chromosome 21 ...
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The sequence of human chromosome 21 and implications for research into Down syndrome
... Table 1 lists the 122 genes for which some functional associa- tion can be inferred. Functional inferences are based on partial or complete similarities of the chromosome 21 genes or gene models to proteins ...
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Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies
... Genotyping was done by Sanger sequencing on DNA samples of the patient and his parents. Briefly, genomic DNA was extracted and purified from peripheral blood samples using QIAamp DNA Blood Midi Kit (Qiagen). Primers ...
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Chromosome 21: a small land of fascinating disorders with unknown pathophysiology
... human chromosome 21 and the homologous chro- mosomal regions on mouse chromosomes 16, 17, and ...mouse chromosome 16 tripli- cated in the partial trisomy 16 mouse ...
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Rapid Prenatal Diagnosis of Trisomy 21 by Real time Quantitative Polymerase Chain Reaction with Amplification of Small Tandem Repeats and S100B in Chromosome 21
... Trisomy 21 (Down syndrome) is the most common congeni- tal anomaly, and it occurs in one out of 700-1000 ...trisomy 21 using real-time quantitative polymerase chain reaction (PCR) of fetal DNA from amniotic ...
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Increased dosage of the chromosome 21 ortholog Dyrk1a promotes megakaryoblastic leukemia in a murine model of Down syndrome
... trisomy 21) have a markedly increased risk of leukemia in childhood but a decreased risk of solid tumors in ...trisomy 21 to leukemogenesis, we used mouse and human cell models of DS to reproduce the ...
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A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications
... on chromosome 21 in three Czech families subjected to microarray ...chromosomes 21 examined in our sample carried the duplications and were inverted, corresponding to carrier frequency of about ...
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The human gamma interferon receptor accessory factor encoded by chromosome 21 transduces the signal for the induction of 2',5'-oligoadenylate-synthetase, resistance to virus cytopathic effect, and major histocompatibility complex class I antigens.
... 1702-1706 0022-538X/93/031702-05$02.00/0 Copyright © 1993, American Society for Microbiology The Human Gamma Interferon Receptor Accessory Factor Encoded by Chromosome 21 Transduces the [r] ...
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Investigation of copy number variations on chromosome 21 detected by comparative genomic hybridization (CGH) microarray in patients with congenital anomalies
... developmental delay, microcephaly, intrauterine fetal de- mise, epilepsia partialis continua, congenital coronary anomaly and seizures. We suggest the CXADR gene is involved with developmental delay in patients with ...
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Structural abnormalities of chromosome 21 in acute leukaemia and transient abnormal myelopoiesis associated with Down syndrome
... normal chromosome from the hybrid caused reversion to the malignant state, indicating that the normal chromosomes carried genes which negatively regulate the development of a malignant phenotype (Friend et al, ...
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Presence of human chromosome 21 alone is sufficient for hybrid cell sensitivity to human interferon.
... RUDDLE3* Departments of Human Genetics' and Biology,3 Yale University, New Haven, Connecticut 06520, and Department of Virology, Weizmann Institute of Science, Rehovot, IsraeP Human/mous[r] ...
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Disomy 21 in spermatozoa and the paternal origin of trisomy 21 Down syndrome
... of chromosome 21 and labelled in SpectrumOrange and SpectrumGreen, respectively, were used (Vysis LSI 21 SpectrumOrange, Cat No: 05 J13-002, Abbot Molecu- lar Inc, USA and Cytocell, Cat ...A ...
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Bayesian Inference of Shared Recombination Hotspots Between Humans and Chimpanzees
... We used the human polymorphism data from the 1000 genomes project (Abecasis et al. 2010). Variant calls from release v. 3.20101123 were downloaded. Only SNPs with two alleles were retained. We chose 10 YRI individuals in ...
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On the origin of trisomy 21 Down syndrome
... Only a small proportion of each ovary from the initial col- lection of foetuses [1-4] was used for this study, with the majority divided amongst other experiments, the results of which are described previously [5-7]. In ...
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Association of specific chromosome alterations with tumour phenotype in posterior uveal melanoma
... other chromosome alterations is less ...specific chromosome changes, and the amount of chromosome abnormalities likewise ...of chromosome 1 were found to associate with larger ciliary body ...
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DYRK1A in Down syndrome: an oncogene or tumor suppressor?
... predisposition. In this issue of the JCI, Malinge et al. report their loss- and gain-of-function experiments in mouse and human cells that show that increased expression of the kinase encoded by the chromosome ...
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Application of Molecular DNA Markers (STRs) in Molecular Diagnosis of Down Syndrome in Iran
... to chromosome 21 facilitates the diagnosis of Down syndrome within about six hours from the collection of the ...of chromosome 21 trisomy and compare its application to the conventional ...
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STEROID MEDIATED CHANGES OF LEUCOCYTE ALKALINE PHOSPHATASE ACTIVITY IN DOWN'S SYNDROME
... seen in chronic myelogenous leukemia (CML) associated with the deletion of a portion of chromosome 21 (Philadelphia.. Leucocyte isolation and enzyme assay as in methods. The zero hour p [r] ...
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AN IN VITRO RESTORATIVE APPROACH FOR TRISOMY AND MONOSOMY USING GARLIC EXTRACT
... trisomy 21 Down syndrome (DS) in ...extra 21 is in a free state because of the parental meiotic non-disjunction phenomenon during ...trisomy 21 condition in DS is because of the maternal meiotic ...
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