Association of the translocation (15;17) with malignant proliferation of promyelocytes in acute leukemia and chronic myelogenous leukemia at blastic crisis.
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Cytogenetic studies were performed on nine patients with acute promyelocytic leukemia. Every patient had an identical translocation (15;17) or, in one case, a variant three-way rearrangement between chromosomes 7, 15, and 17. Another patient with chronic myelogenous leukemia was examined at the time of blastic crisis when the patient's bone marrow was infiltrated by hypergranular promyelocytes and blasts. Bone marrow cells contained a t(15;17) as well as a Ph1 chromosome. Only the latter abnormality was observed in the chronic phase of the disease. The translocation (15;17) was detected in all ten patients when bone marrow or peripheral blood cells were cultured for 24 hours prior to making chromosome preparations. However, the t(15;17) was not seen in three of these same cases when bone marrow cells were processed directly. These findings indicate that the t(15;17) is closely associated with acute proliferation of leukemic promyelocytes and that detection of this karyotypic defect may be influenced by the particular cytogenetic processing method used in different laboratories. An analysis of the banding pattern in the variant translocation provided additional evidence favoring chromosomal breakpoints at or very near the junction between bands 17q12 and 17q21 and at 15q22. (+info)
The gene encoding the large subunit of human RNA polymerase II is located on the short arm of chromosome 17.
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We have used chromosomal in situ hybridization and Southern blot analysis of DNA from somatic cell hybrids to determine the chromosomal localization of the subgenomic DNA fragment that encodes part of the large subunit of human RNA polymerase II. The results of our analysis demonstrate localization of the human RNA polymerase II large subunit gene to the short arm of chromosome 17. (+info)
Antenatal sonographic findings in trisomy 18.
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The clinical and sonographic findings of trisomy 18 are varied. Fifteen cases of trisomy 18 were retrospectively reviewed with attention to demonstrable antenatal sonographic features. Certain combinations of findings, particularly in the third trimester, seem highly suggestive of this diagnosis. A late antepartum diagnosis is warranted because of the poor prognosis. (+info)
LFA-1 immunodeficiency disease. Definition of the genetic defect and chromosomal mapping of alpha and beta subunits of the lymphocyte function-associated antigen 1 (LFA-1) by complementation in hybrid cells.
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Lymphocyte function associated antigen 1 (LFA-1) is a leukocyte cell adhesion protein. We have studied a novel human immunodeficiency disease in which LFA-1 and two other proteins which share the same beta subunit are lacking from the surface of leukocytes. The basis of the inherited defect in cell surface expression of both the alpha and beta subunits of LFA-1 was determined by somatic cell fusion of patient or normal human cells with an LFA-1+ mouse T cell line. Human LFA-1 alpha and beta subunits from normal cells could associate with mouse LFA-1 subunits to form interspecies hybrid alpha beta complexes. Surface expression of the alpha but not the beta subunit of patient cells was rescued by the formation of interspecies complexes. The findings show that the LFA-1 alpha subunit in genetically deficient cells is competent for surface expression in the presence of an appropriate beta subunit, and suggest that the genetic lesion affects the beta subunit. The human LFA-1 alpha and beta subunits were mapped to chromosomes 16 and 21, respectively. The genetic defect is inferred to be on chromosome 21. (+info)
Trisomy 18 in a 13 year old girl.
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A 13 year old girl with trisomy 18 is described. She showed profound mental and growth retardation, severe kyphoscoliosis, and unusual ocular features including discontinuous eyebrows, distichiasis, and blue sclerae. (+info)
Prenatal detection of monosomy 18p and trisomy 18q mosaicism with unexpected fetal phenotype.
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A mosaic karyotype 46,XX,del(18)(p11)/46,XX,-18,+?i(18q) was found in cultured amniotic cells. Fetal blood sampling confirmed the presence of both cell lines. The pregnancy was terminated and the two cell lines were demonstrated in varying proportions in the fetal tissues. The few abnormal features seen in the fetus may represent a mild expression of the 18p-- phenotype inhibiting the effects of the trisomy 18q. (+info)
Partial monosomy 13q and partial trisomy 18p: case report with necropsy findings.
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We describe a stillborn female infant with severe intrauterine growth retardation and multiple congenital anomalies. She was found to have a deletion of 13q22----qter and trisomy of 18p11.2----pter, resulting from a maternal balanced translocation. (+info)
18q+, the progeny of a balanced translocation t(1;18)mat: case report with necropsy findings.
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A female infant with additional genetic material on the long arm of chromosome 18 is described. Cytogenetic studies of the infant and her mother showed that the altered region resulted from an unbalanced translocation of part of the long arm of chromosome 1. This chromosomal abnormality has not been reported previously, according to a recent registry of abnormal chromosome patterns. The patient had hydrops fetalis and multiple congenital abnormalities, involving the cardiovascular, respiratory, and skeletal systems, together with unusual facies. External features, radiological findings, and gross and microscopical examination at necropsy are presented and compared with previously reported cases of related but dissimilar chromosomal abnormalities. (+info)