Chromosomal Disorders
Mostrando 1-12 de 106 artigos, teses e dissertações.
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1. Ten cases with 46,XX testicular disorder of sex development: single center experience
ABSTRACT Objective To present clinical, chromosomal and hormonal features of ten cases with SRY-positive 46,XX testicular disorder of sex development who were admitted to our infertility clinic. Cases and Methods Records of the cases who were admitted to our infertility clinic between 2004 and 2015 were investigated. Ten 46,XX testicular disorder of sex
Int. braz j urol.. Publicado em: 2017-08
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2. Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center
ABSTRACT The term DSD refers to disorders that affect the normal process of sexual development causing disagreement between chromosomal, gonadal and phenotypic sex, and this study aimed to describe the clinical profile of a group with DSD 46, XY joined on DSD Clinic of Hospital of Salvador, Bahia Clinics. It was a retrospective study of medical records of su
Int. braz j urol.. Publicado em: 2015-10
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3. Determination of mutagenic and cytotoxic effects of Limonium globuliferum aqueous extracts by Allium, Ames, and MTT tests
Mutagenic and cytotoxic effects of roots, stems and leaves of Limonium globuliferum Kuntze, Plumbaginaceae, aqueous extracts were studied by Allium, Ames, and MTT tests. These are plant, bacterial and mammalian cell assays, respectively. The Allium test analyses showed that aqueous extracts of this species have dose-dependent toxicity and induce chromosomal
Rev. bras. farmacogn.. Publicado em: 2014-01
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4. Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review
Introduction Branchio-oto-renal (BOR) syndrome is an autosomal-dominant genetic condition with high penetrance and variable expressivity, with an estimated prevalence of 1 in 40,000. Approximately 40% of the patients with the syndrome have mutations in the gene EYA1, located at chromosomal region 8q13.3, and 5% have mutations in the gene SIX5 in chromoso
Int. Arch. Otorhinolaryngol.. Publicado em: 2014-01
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5. New microdeletion and microduplication syndromes: a comprehensive review
Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies (MCA), autistic spectrum disorders (ASD) and other phenotypic findings. In this paper, we review the "new" and emergent microdeletion a
Genet. Mol. Biol.. Publicado em: 2014
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6. Human molecular cytogenetics: from cells to nucleotides
The field of cytogenetics has focused on studying the number, structure, function and origin of chromosomal abnormalities and the evolution of chromosomes. The development of fluorescent molecules that either directly or via an intermediate molecule bind to DNA has led to the development of fluorescent in situ hybridization (FISH), a technology linking cytog
Genet. Mol. Biol.. Publicado em: 2014
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7. AvaliaÃÃo dos genes MLL, RB e TP53 em pacientes com sÃndrome mielodisplÃsica / Evaluation of genes MLL, RB and TP53 in patients with Myelodysplastic Syndromes
Myelodysplastic syndromes (MDS) represent a heterogeneous group of clonal disorders affecting the hematopoietic pluripotent cell, characterized by low cell counts in peripheral blood, dysplasia in one or more cell lines, inefficient hematopoiesis and increased risk of progression to acute myeloid leukemia. Although the disease can affect patients of other ag
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 21/06/2011
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8. Association of loss of heterozygosity with cytogenetic abnormalities in acute myeloid leukemia and myelodysplastic syndrome
Deletions on chromosomes 5 and 7 are frequently seen in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). It is assumed that these deletions indicate loss of tumor suppressor genes on these chromosomes and until these tumor suppressor genes are identified, the functional consequences of these deletions and the molecular basis of these myeloid
Brazilian Journal of Medical and Biological Research. Publicado em: 2008-07
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9. Characterization of chromosome rearrangements in patients with multiple congenital malformation and/or mental retardation (MCM/MR) / Caracterização de rearranjos cromossômicos em pacientes com malformações congênitas múltiplas e/ou retardamento mental (MCA/MR)
Two apparently "de novo" balanced translocations and one duplication of the short arm of chromosome 20 were studied. Our aim was to determine the breakpoints by chromosomal analysis through fluorescentin situ hybridization (FISH) and identify candidate genes and how they were involved with the clinical phenotypes of the patients. Patient 1 carried a duplicat
Publicado em: 2008
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10. Frequency of Chromosomal disorders in patients assisted at Instituto da Criança genetic service within the period of 1992-2002 / Estudo da freqüência de aberrações cromossômicas nos pacientes atendidos na Unidade de Genética do Instituto da Criança entre 1992 a 2002
INTRODUÇÃO: As aberrações cromossômicas constituem uma das maiores categorias das doenças genéticas, e são causa significativa do retardo mental e das malformações congênitas. Essas anormalidades correspondem a 50% dos casos de abortos espontâneos, 6% de natimortos e 0,6-1% de nativivos. OBJETIVO: Avaliar a freqüência das aberrações cromossô
Publicado em: 2007
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11. Clastogenic activity of 2-chlorodeoxyadenosine in mammalian somatic cells
The base analogue 2-chlorodeoxyadenosine (2-CdA) used for therapy in chronic resistant and advanced lymphoproliferative disorders, is cytotoxic for both dividing and non-dividing lymphocytes. The present work evaluated the clastogenic potential of this drug in vitro in human lymphocytes in culture and in vivo in BALB/c mice bone marrow cells. In human lympho
Genetics and Molecular Biology. Publicado em: 2005
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12. Animal models for human contiguous gene syndromes and other genomic disorders
Genomic disorders refer to a group of syndromes caused by DNA rearrangements, such as deletions and duplications, which result in an alteration of normal gene dosage. The chromosomal rearrangements are usually relatively small and often difficult to detect cytogenetically. In a subset of such conditions the rearrangements comprise multiple unrelated contiguo
Genetics and Molecular Biology. Publicado em: 2004