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Results for “CHROMOSOME ABNORMALITIES”

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At least 1,567 records · Page 87Linked to original sources
PubMed1989

der(1)t(1;9): a specific chromosome abnormality in polycythemia vera? Cytogenetic and in situ hybridization studies.

Two patients with polycythemia vera and an extra der(1)t(1;9) chromosome are reported. In one patient this was found as the sole abnormality. The other patient originally presented with trisomy 9 but later developed an extra der(1) during the further course of the disease with disapperance of the extra chromosome 9. In situ hybridization studies on this latter patient proved that the centromere of chromosome 1 was involved in the formation of the derivative chromosome.

Adult↗
PubMed1983

T cell prolymphocytic leukemia. 2 cases having a postthymic helper phenotype with complement receptors and 14q+ chromosome abnormality.

We describe 2 elderly patients with splenomegaly and progressive bone marrow failure due to infiltration by leukemic prolymphocytes with a single prominent nucleolus. In each case the leukemia cells had a unique helper T cell phenotype with complement receptors and contained coarse blocks of acid alpha-naphthyl butyrate. A 14q+ chromosome was among the abnormalities that marked one abnormal T cell clone. Histology of the spleen showed mainly red pulp infiltration merging with periarteriolar regions and different from the pseudonodular pattern described in many cases of B cell prolymphocytic leukemia (PLL). Ultrastructurally, leukemia cells contained dense lysosomes, perinuclear clusters of 10-nm microfilaments but no distinctive cytoplasmic inclusions previously described in (B cell) PLL. We suggest that early phenotyping of leukemia cells may enable consideration of monoclonal antibody therapy in elderly patients with bone marrow failure resistant to chemotherapy.

Aged↗
PubMed1985

Juvenile granulosa cell tumor--another neoplasm associated with abnormal chromosomes and ambiguous genitalia. A report of three cases.

Three infants, 3 months of age or younger with abnormal karyotypes and ambiguous genitalia, had gonadal juvenile granulosa cell tumors. Two of the patients had mixed gonadal dysgenesis and the third had an intersexual disorder of undetermined type. Two tumors arose in undescended testes, and the third in an undescended gonad of uncertain nature. The occurrence of this uncommon neoplasm in these infants indicates that it is another type of neoplasm that may develop in the gonad of a patient with an abnormal karyotype and ambiguous genitalia.

Chromosome Aberrations↗
PubMed1980

Evolution of chromosomal abnormalities in sequential cytogenetic studies of ataxia telangiectasia.

Sequential cytogenetic studies of four patients with ataxia telangiectasia showed the progressive development of lymphocyte clones, each marked with a rearranged chromosome 14. Initial studies had shown random chromosomal breaks and rearrangements. Later studies in all patients showed nonrandom rearrangement of chromosome 14 with a breakpoint at 14q12 and with the distal segment translocated to either chromosome 14 or 7. The proportion of circulating lymphocytes carrying the marker tended to increase with time, accounting for the majority of the lymphocytes eventually in one case. The marked lymphocyte clones evolved further, as a result of loss of the small centric portions of the rearranged chromosome 14 (14pter leads to 14q12). Perhaps the abnormal clones in ataxia telangiectasia escape immunologic surveillance and flourish in an immunologically impaired environment. Subsequent to the loss of the centric portion of the rearranged chromosome 14, the cells may acquire additional capabilities that enhance malignant transformation.

Adolescent↗
PubMed1996

Simultaneous detection of structural and numerical chromosome abnormalities in sperm of healthy men by multicolor fluorescence in situ hybridization.

Both structural and numerical chromosome aberrations in sperm represent important categories of paternally transmitted genetic damage. Therefore, a new multiprobe fluorescence in situ hybridization (FISH) method, using DNA probes for three targets (centromere and telomere of chromosome 1, centromere of chromosome 8), was developed to detect human sperm carrying three types of chromosomal defects: (1) terminal duplications or deletions in chromosome 1p, (2) aneuploidy involving chromosomes 1 or 8, and (3) diploidy. Baseline frequencies were determined for three healthy donors who had been previously evaluated for sperm cytogenetics by the human-sperm/hamster-oocyte cytogenetic technique (hamster technique). Among approximately 120,000 sperm analyzed by the new FISH method, the average baseline frequencies of sperm carrying telomeric duplications and deletions of 1p were 3.2 +/- 1.9 and 2.9 +/- 3.6 per 10(4), respectively. Diploid sperm was found in an average frequency of 6.6 +/- 4.0 per 10(4). Average frequencies of disomic sperm for chromosomes 1 or 8 were 1.7 +/- 2.2 and 1.9 +/- 2.3 per 10(4), respectively. Inter-individual differences were observed for deletions of 1p but not for the other sperm phenotypes. A good correlation was obtained between the frequencies of sperm with structural chromosome aberrations detected with the new assay and the frequency of sperm carrying premeiotic or meiotic cytogenetic damage detected with the hamster technique. The observed levels of numerical aberrations with the new FISH assay were within range of the baseline frequencies reported by the hamster technique. The newly developed FISH assay has promising applications in genetic, clinical, physiological and toxicological studies.

Adult↗
PubMed2001

An investigation of the age-dependency of chromosome abnormalities in human populations exposed to low-dose ionising radiation.

Among various cytogenetic changes stable chromosome aberrations (SCHA) seem to be the most significant for ageing and carcinogenesis. Being nonlethal they can persist through cell divisions and accumulate in time. We studied the age response of SCHA (translocations and insertions) in normal and radiation exposed human populations. Two cohorts of people at the age range of 3--72 years were studied: control (43 persons) and exposed to low doses of accidental irradiation due to Chernobyl accident and atomic bomb testing in Semipalatinsk (67 persons). FISH method was used for visualisation of chromosome aberrations. Metaphases from cultured lymphocytes were hybridised with biotinilated whole chromosome specific DNA probes for 1, 4 and 12 chromosomes, and with pancentromeric probe labelled with digoxigenin. The frequency of SCHA in lymphocytes increased as a quadratic function of donor age in both populations studied, being higher in exposed cohort as compared with control one. No age dependence for dicentrics was observed. The frequency of SCHA is a reliable biomarker of ageing in humans. Quadratic model of their age-response gives reasons to suggest that their increase is due to lower level of DNA repair or/and the genomic instability in older people. The exposure of people to low doses of ionising radiation accelerates the age-related increase of SCHA frequency.

Adolescent↗