Trisomy Of 21
Mostrando 13-24 de 136 artigos, teses e dissertações.
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13. Modelo com erros de classificação para a proporção de não- disjunção cromossômica na meiose I
The main causes of numerical chromosomal anomalies, including trisomies, arise from an error in the chromosomal segregation during the meiotic process, named a non-disjuntion. One of the most used techniques to analyse chromosomal anomalies is the Polymerase Chain Reaction (PCR) followed by a quantitative analysis via laser densitometry, which counts the num
Publicado em: 2007
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14. Expressão heteróloga, purificação e caracterização das proteínas humanas DCRA (Down Syndrome Critical Region Gene A) e DSCR8 (Down Syndrome Critical Region Gene 8).
Down syndrome is the most frequent cause of mental retardation affecting millions of people worldwide and results from full or partial trisomy of chromosome 21 (HC21). Rare cases of partial trisomy allowed the identification of a small region in HC21 common to all carriers called Down Syndrome Critical Region. The genes DCRA and DSCR8, mapped to this region,
Publicado em: 2004
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15. Alterações ultrassonógráficas de 2° e 3° trimestres observadas em 143 fetos submetidos ao estudo cromossômico e acompanhados no Centro de Medicina Fetal / UFMG
Purpose: To describe the ultrasonographic findings observed in 143 fetuses, associating them with the main chromosomal anomalies and verifying if there is a typical ultrasonographic alteration that could be related to a particular chromosomopathy. Method: A retrospective and descriptive study was carried out including 143 fetuses with ultrasonographic abnorm
Publicado em: 2003
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16. Localização subcelular da DSCR2, uma proteína relacionada à síndrome de Down.
Down Syndrome (DS) is the major cause of mental retardation with a high incidence among human beings. Main features in DS include facial and dermatological features, congenital heart defects as well as immunological, gastrointestinal and endocrine abnormalities. Among a variety of cancer, a 20 fold increased risk of developing leukemia in younger people and
Publicado em: 2003
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17. Long-term outcome of 25 children and adolescents with severe aplastic anemia treated with antithymocyte globulin
Severe aplastic anemia (SAA) is probably an immune-mediated disorder, and immunosuppressive therapy is recommended for patients with no available donor for bone marrow transplant. Between October 1984 and November 1987, 25 consecutive children and adolescents with SAA with no HLA-compatible marrow donor received equine antithymocyte globulin (ATG) (15 mg kg-
Brazilian Journal of Medical and Biological Research. Publicado em: 2000-05
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18. Associações telomericas como indicadores de instabilidade cromossomica em pacientes com leucemias mieloides e sindromes mielodisplasicas
The associations between specific chromosomal abnormalities and different types of hematological neoplasias are well established. However, telomeric associations (tas), which are associations between termini regions of chromosomes (telomeres), are sporadicly observed in neoplasias, leading to the question about their role as a biological indicator of occupat
Publicado em: 1999
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19. Partial trisomy 20 (20q13) and partial trisomy 21 (21pter leads to 21q21.3).
A patient with a double partial trisomy 20 and 21 with mild mental retardation and multiple congenital anomalies is presented. Despite trisomy for a substantial portion of chromosome 21, the patient showed only minor stigmata compatible with Down syndrome.
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20. Trisomy 18 and trisomy 21 mosaicism in a Down's syndrome patient.
A male child with typical features of Down's syndrome and mosaicism of two trisomic cell lines, trisomy 18 (84%) and trisomy 21 (16%), is reported. Non-disjunction or anaphase lag of chromosomes 18 and 21 could be the cause.
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21. Increased adhesiveness of Down syndrome fetal fibroblasts in vitro.
We compared the in vitro rate of divalent cation-independent aggregation of fibroblasts derived from abortuses with normal karyotypes and with trisomy 21 (Down syndrome). Fibroblasts from five lung and two of three cardiac cultures from subjects with Down syndrome aggregated more rapidly than matched fibroblasts from normal controls or lung fibroblasts from
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22. FISH detection of trisomy 21 in interphase by the simultaneous use of two differentially labelled cosmid contigs.
Techniques have been reported in which fluorescence in situ hybridisation (FISH) and cosmid probes are used to detect trisomy 21 (and other abnormalities involving chromosomes X, Y, 13, and 18) on uncultured amniocytes. However the detection rate of trisomy 21 is lower than for the other anomalies owing to a larger number of uninformative results and false n
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23. Trisomy 16p in a liveborn infant and a review of partial and full trisomy 16.
An abnormal female infant, who survived for 10 months with almost complete trisomy 16p and monosomy of sub-band 21q22.3, is described. The chromosome anomaly was the result of an unbalanced segregation of a maternal balanced translocation t(16;21)(p11;q22.3). The partial monosomy was considered to have had little or no adverse phenotypic effect. Cases with t
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24. Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).
We report on two mentally retarded adults with an unbalanced karyotype resulting from a familial balanced translocation between chromosomes 8 and 21, t(8;21)(p21.1;q22.3). This translocation has not been reported before. Both patients had partial trisomy 8p and partial monosomy 21q. Fluorescence in situ hybridisation (FISH) was used to determine the chromoso