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Results for “CHROMOSOME ABNORMALITIES”

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At least 1,441 records · Page 80Linked to original sources
PubMed2000

Atypical chronic myeloid leukaemia with trisomy 21 mosaicism as a sole chromosomal abnormality.

We present a 46-year-old patient with Ph-chromosome negative, bcr-negative chronic myeloid leukaemia (CML) in accelerated phase with a clonal trisomy 21 in the leukaemic blast cells. A rapid progress of disease with appearance of monocytosis is described, showing similar features to chronic myelomonocytic leukaemia (CMML). Heterogeneous characteristics and possible distinction of these two entities are discussed.

Chromosomes, Human, Pair 21↗
PubMed1991

[Detection of chromosomal abnormalities using cordocentesis].

Four cases of cytogenetic prenatal diagnosis of fetuses with chromosomal aberrations are presented: (1) the Patau syndrome; (2) and (4) the Down syndrome; (3) the Klinefelter syndrome. Cordocentesis has been shown to be expedient for rapid and accurate determination of fetus karyotype. Indicative for cytogenetic examination were ultrasonic data, maternal age, the values of AFP, HGG and nonconjugated estreol in maternal serum. Comparison of ultrasonic examination of fetuses with the data on abortus autotopsia was undertaken. The results demonstrate importance of ultrasonic, cytogenetic, biochemical and morphological research in prenatal malformation diagnosis.

Adult↗
PubMed1983

[Chromosome abnormalities in acute granulocytic leukemias or in non-lymphoid acute leukemias].

Chromosome anomalies, structural and/or numerical changes are present in about 50% of acute non lymphoïd leukemia (ANLL). They are non-random: chromosome 8, 7, 5 and 11 being more frequently involved. Correlations between chromosomal anomalies and type of proliferation have been established: translocation t (8;21) and acute myeloblastic leukemia M2; translocation t (15;17) and acute promyelocytic leukemia M3; structural anomalies of chromosome 11 long arm and acute monoblastic leukemia M5. A relationship between prognosis and leukemic karyotype has been found. Median survival is generally longer in patients with normal karyotypes. Future studies may correlate chromosome anomalies and metabolic changes with the help of progress in gene mapping. A better knowledge will provide not only a better therapy but also a better understanding of the leukemic process.

Chromosome Aberrations↗