نتایج جستجو برای: chromosomal disorders
تعداد نتایج: 715373 فیلتر نتایج به سال:
Gray hair syndromes are rare syndromes which have an autosomal recessive inheritance and are characterized by pigmentary dilution of skin and hair, defects in immunological function, and nervous system defects. They comprise three disorders namely Chediak-Higashi syndrome (CHS), Griscelli syndrome (GPS), and Elejalde syndrome. Clinically, it is difficult to distinguish these disorders as their ...
The lymphoid malignancies represent a diverse range of tumors characterized by variable stages of maturation ranging from proB or T cells in acute lymphoblastic leukemia (ALL) to cells representative of the lymph node in the non-Hodgkin lymphomas (NHLs) to mature plasma cells in myeloma and related disorders. These disorders have a diverse range of clinical manifestations, sites of organ involv...
DNA rearrangement rather than point mutation is an emerg ing hypothesis for human carcinogenesis. Although there is no direct evidence for this hypothesis, indirect evidence is pro vided by cancer cytogenetics and genetics. It has been sug gested that patients with Bloom's syndrome, a disorder of spontaneous chromosomal rearrangement, develop the com mon fatal internal cancers and thus that gen...
Schizotypal traits are of interest and importance in their own right and also have theoretical and clinical associations with schizophrenia. These traits comprise attenuated psychotic symptoms, social withdrawal, reduced cognitive capacity, and affective dysregulation. The link between schizotypal traits and psychotic disorders has long since been debated. The status of knowledge at this point ...
OBJECTIVE To test the hypothesis that chromosomal microarray analysis frequently diagnoses conditions that require specific medical follow-up and that referring physicians respond appropriately to abnormal test results. METHODS A total of 46,298 postnatal patients were tested by chromosomal microarray analysis for a variety of indications, most commonly intellectual disability/developmental d...
Chromosome 18 abnormalities are associated with a range of physical abnormalities such as short stature and hearing impairments. Psychiatric manifestations have also been observed. This study focuses on the presentations of psychiatric syndromes as they relate to specific chromosomal abnormalities of chromosome 18. Twenty-five subjects (13 with an 18q deletion, 9 with 18p tetrasomy, and 3 with ...
introduction: most of the hematologic malignancies are heterogenous with regard to morphology, immunophenotype, and genetic rearrangements. multiple recurrent chromosomal aberrations have been identified by conventional cytogenetic analysis, which is now widely recognized as one of the most important diagnostic and prognostic determinants in these patients. patients and methods: bone marrow sam...
The chromosomal polymorphism defined by variations of some regions a person (the constitutive heterochromatin and the short arms acrocentric chromosomes (13 to 15 21 - 22)) sometimes highlighted problems with regard their safety pathogenicity. Polymorphisms are usually found in same family transmitted dominant Mendelian. Chromosome 9 inversion is frequent phenomenon that cytogeneticists conside...
Introduction Reproductive failure (RF) includes a variety of problems such as infertility, recurrent miscarriages, stillbirths, the birth children with multiple defects, and/or mental retardation. Chromosomal aberrations in one partners (in 2-8%) are considered to be causes reduced fertility couples reproductive age. Aim The aim this study was evaluate effect chromosomal abnormalities families ...
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