Sökning: "6q deletion"
Visar resultat 1 - 5 av 6 avhandlingar innehållade orden 6q deletion.
1. Molecular and Clinical Characterization of Syndromes Associated With Intellectual Disability
Sammanfattning : Intellectual disability (ID) affects approximately 1-3% of the population and is defined as having an IQ below 70 as well as a significant limitation in adaptive behavior.The implementation of chromosomal microarrays (CMA) into the field of clinical genetics has revolutionized the ability to find genetic aberrations responsible for different genetic disorders. LÄS MER
2. Genetic changes in childhood acute lymphoblastic leukaemia and other lymphoid malignancies
Sammanfattning : Malignant transformation of normal cells is the result of defects in cell growth control, differentiation and programmed cell death. It has been convincingly shown that malignant cells carry mutations in the genes controlling these cellular processes. LÄS MER
3. Molecular genetics of lymphoid malignancies
Sammanfattning : Advances in molecular genetics during the last decade has made it possible to identify genetic lesions in malignant cells that are specific for disease entities with a common clinical presentation and prognosis. In chronic lymphocytic leukemia (CLL) deletions in 13ql4 are the most frequently occurring abnormalities and deletions cluster around marker D13S319 suggesting that a tumor suppressor gene is located in this region. LÄS MER
4. Molecular mechanisms in cervical carcinogenesis : Studies of clonality, somatic genetic alterations and human papillomavirus variants in cervical pre-invasive and invasive cancer
Sammanfattning : Cervical cancer derives from a series of pre-invasive cervical neoplastic lesions termed CIN I-III (Cervical Intraepithelial Neoplasia) via typical multiple-step processes. In contrast to premalignant disorders in other organs, different degrees of CIN possess a distinct biological behaviour where a proportion spontaneously regress or persist, whereas some progress to invasive cancer. LÄS MER
5. Studies of gene fusions and copy number alterations in salivary and adnexal neoplasms
Sammanfattning : Cancer is a genetic disease caused by the accumulation of genetic changes such as mutations and chromosomal rearrangements. An increasing number of genetic studies of both hematological and solid neoplasms have shown that recurrent chromosome translocations often result in fusion oncogenes. LÄS MER