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Results for “CHROMOSOME ABNORMALITIES”

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At least 1,693 records · Page 94Linked to original sources
PubMed2007

Abnormalities of chromosome 1p/q are highly associated with chromosome 13/13q deletions and are an adverse prognostic factor for the outcome of high-dose chemotherapy in patients with multiple myeloma.

The prognostic value of chromosomal abnormalities was studied in untreated multiple myeloma patients who were registered into a prospective randomised multicentre phase 3 study for intensified treatment (HOVON24). A total of 453 patients aged less than 66 years with stage II and III A/B disease were registered in the clinical study. Cytogenetic analysis was introduced as a standard diagnostic assay in 1998. It was performed at diagnosis in 160 patients and was successful in 137/160 patients (86%). An abnormal karyotype was observed in 53/137 (39%) of the patients. Abnormalities of chromosome 1p and 1q were found in 19 (36% of patients with an abnormal karyotype) and 21 patients (40%). There was a strong association between chromosome 1p and/or 1q abnormalities and deletion of chromosome 13 or 13q (n = 27, P < 0.001). Patients with karyotypic abnormalities had a significantly shorter overall survival (OS) than patients with normal karyotypes. Complex abnormalities, hypodiploidy, chromosome 1p abnormalities, chromosome 1q abnormalities, and chromosome 13 abnormalities were associated with inferior OS on univariate analysis, as well as after adjustment for other prognostic factors. In conclusion, chromosome 13 abnormalities and chromosome 1p and/or 1q abnormalities were highly associated, and are risk factors for poor outcome after intensive therapy in multiple myeloma.

Adult↗
PubMed1986

Cytogenetic studies in Wiskott-Aldrich syndrome: identification of a case with a 6p chromosome abnormality.

Lymphocytes from patients with Wiskott-Aldrich syndrome (WAS) were studied with prometaphase G banding to search for minor chromosome anomalies and in mutagen stress assays to assess the extent of chromosome breakage under these conditions. One patient, a sporadic case of WAS, was found to have a stable inversion of a large segment of one chromosome 6 that involved the region encoding the major histocompatibility complex (MHC). The anomaly was not present in the patient's parents, nor in three other unrelated patients with WAS, all of whom demonstrated X-linked inheritance (based on family history). None of the four patients showed an excessive number of breaks or radial exchange figures following exposure to mitomycin C or diepoxybutane. Thus chromosome fragility in WAS was not confirmed by these studies. However, the incidental finding of 6p inversion in a sporadic case of WAS suggests that genetic rearrangement involving the MHC can result in clinical immunodeficiency mimicking WAS.

Child, Preschool↗
PubMed1981

Chromosomal abnormalities in acute promyelocytic leukaemia.

In 2 patients with acute promyelocytic leukaemia (APL) an isochromosome for the long arm of chromosome 17 was seen in part of the bone marrow mitoses at diagnosis and relapse, respectively. In one of them, there was a t(15q+; 17q-) affecting one of the No. 15 chromosomes and both arms of the isochromosome. Thus the translocations must have occurred before (or simultaneously with) the formation of the isochromosome. This is the first example of t(15;17) out of 17 patients with APL studied in Finland.

Adult↗
PubMed2006

[A case of Werner syndrome with chromosomal abnormality].

A 52-year-old woman with diabetes mellitus (DM) complained of weakness of the arms and legs. She was referred to our hospital in November 2002 because of anemia, thyroid tumor and meningioma including DM. She was short in stature, juvenile bilateral cataract, intractable skin ulcers, clavus on the sole of her foot, a bird-like face and high-pitched voice. Typical physical features led to the final diagnosis of Werner's syndrome. Although the myelogram revealed no abnormal findings except erythroid hypoplasia, cytogenetic analysis of bone marrow cells showed deletion of chromosome 20 in 10% of the analyzed cells, which suggested the possibility of that myelodysplastic syndrome (MDS) or acute myeloblastic leukemia (AML) could occur. She had a thyroidectomy because both lobes of the thyroid gland were enlarged and caused hoarseness, In addition, it is common knowledge that the goiter could become malignant. We need to follow her carefully because she might be vulnerable to malignant disease, including leukemia and malignant meningioma.

Chromosome Deletion↗
PubMed1986

Prognostic significance of chromosomal abnormalities in acute leukaemias and myelodysplastic syndromes.

The main purpose of this review is to emphasize the critical role that chromosome analysis can play in the diagnosis, prognosis and management of blood malignancies. Table 3 shows that most patients with AML, MDS and ALL can be placed into one of three major prognostic categories. When chromosome analysis is combined with a cytological study in AML and MDS and with a cytological and immunophenotypic study in ALL, the clinical value of such analysis is further enhanced. Because of critical prognostic information that may be obtained primarily from refined chromosome analysis, we recommend that a major effort be undertaken to develop capability for such analysis in all large institutions so that the information derived can be used routinely in the assessment of haematological malignancies. In particular, it is now necessary to reassess the value of current treatments taking into consideration refined chromosome studies. We believe that patients within specific chromosomal categories should be treated with specific types of therapy in an attempt to improve overall survival.

Chromosome Aberrations↗
PubMed1976

Abnormal chromosome 22 and recurrence of trisomy-22 syndrome.

Trisomy-22 was confirmed with both Q- and G-banding in two sibs. Growth and mental retardation plus various dysmorphic features of this syndrome are described and compared with previous reports. Cytogenetic studies reveal a morphologically atypical No. 22 in cells of the phenotypically normal mother (46,XX) and in both affected children. The variant G chromosome is identified as No. 22 by Q- and G-banding and is interpreted as a product of a pericentric inversion on the basis of general length, arm ratio (1.4), and anomalous satellite association frequency. Repeated nondisjunction for No. 22 is considered to have resulted from asynapsis caused by interference of an inversion loop configuration which, though short, comprised a major part of chromosome 22.

Abnormalities, Multiple↗