Interacting populations affecting proliferation of leukemic cells in culture. (1/44)

Peripheral blood cells from three patients with acute leukemic have been studied using a suspension culture method previously described.1 Cytogenetic studies in two of the patients permitted the identification of the proliferating cells in the cultures as being derived from a leukemic population. Cell separation studies using velocity sedimentation supported the concept that growth of the leukemic cells in culture is dependent on an interaction between two populations of leukemic cells.  (+info)

A mentally retarded child with a translocation involving chromosomes 12 and 19. (2/44)

This report concerns a de novo reciprocal translocation between the long arms of the chromosomes 12 and 19 in a mentally retarded child with bilateral radioulnar synostosis, agenesis of the corpus callosum, and several minor congenital malformations.  (+info)

Trisomy of the short arm of chromosome 10. (3/44)

A case of a fetus with multiple malformations is described. The mother showed a 46,XX,rcp(10;22) (p11;p11) karyotype. Amniocentesis at the 16th week of gestation revealed that the male fetus had a der(22) chromosome--that is, he was trisomic for a large part of 10p (10pter leads to 10p11). Clinical findings of cases with 10p, 10q, and mosaic 10 trisomies are briefly reviewed.  (+info)

Partial trisomy 20 (20q13) and partial trisomy 21 (21pter leads to 21q21.3). (4/44)

A patient with a double partial trisomy 20 and 21 with mild mental retardation and multiple congenital anomalies is presented. Despite trisomy for a substantial portion of chromosome 21, the patient showed only minor stigmata compatible with Down syndrome.  (+info)

Genome-wide linkage of obstructive sleep apnoea and high-density lipoprotein cholesterol in a Filipino family: bivariate linkage analysis of obstructive sleep apnoea. (5/44)

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c-src is consistently conserved in the chromosomal deletion (20q) observed in myeloid disorders. (6/44)

The proto-oncogene c-src has been mapped to two bands in human chromosomes, 1p36 and 20q13, both of which are involved in rearrangements in human tumors. In particular, deletions (loss of part of a chromosome) of the long arm of chromosome 20, del(20q), are commonly observed in hematologic malignant diseases. By using in situ chromosomal hybridization of a c-src probe to metaphase cells prepared from leukemic bone marrow cells of three patients with a del(20q), we observed specific labeling on the deleted chromosome in each patient, indicating that the c-src locus was conserved. The presence on the rearranged chromosomes of c-src, which is normally located on the most distal band of 20q, indicated that the deletions were not terminal as they appeared to be on the basis of chromosome morphology, but rather that they were interstitial. The location of c-src relative to the distal breakpoint in these deletions is unknown. By using the v-src probe in Southern blot analysis of genomic DNA from three patients with a del(20q), we found that no major genomic rearrangements or amplification of the c-src genes had occurred within the regions homologous to v-src. Our observation that c-src is consistently preserved in these rearranged chromosomes suggests that this gene may play a role in the pathogenesis of some myeloid disorders.  (+info)

Leukemia with Down's syndrome: translocation between chromosomes 1 and 19 in acute myelomonocytic leukemia following transient congenital myeloproliferative syndrome. (7/44)

A girl with Down's syndrome was born with a myeloproliferative disorder. The child had spontaneous regression of the myeloproliferation, with acute leukemia developing at a later date. Morphologic, cytochemical, immunologic, and immunoglobulin gene configuration studies all supported the diagnosis of acute nonlymphocytic leukemia. High-resolution chromosome studies revealed that the leukemic cells consistently contained a translocation between chromosomes 1 and 19: der(19)t(1;19)(q25;p13). Spontaneous regression of the transient myeloproliferative syndrome of the newborn with Down's syndrome may not always be permanent, and the transient myeloproliferative syndrome may sometimes represent an early sign of acute nonlymphocytic leukemia.  (+info)

Isolation of duplicated human c-src genes located on chromosomes 1 and 20. (8/44)

The oncogene (v-src) of Rous sarcoma virus apparently arose by transduction of the chicken gene known as c-src(chicken). We isolated DNA fragments representative of two src-related loci from recombinant DNA bacteriophage libraries of the human genome. One of these loci, c-src1(human), appeared to direct the synthesis of a 5-kilobase polyadenylated RNA that presumably encodes pp60c-src(human). Probes specific for the other locus, c-src2(human), did not hybridize to polyadenylated RNA prepared from a variety of human cell lines. Partial nucleotide sequence determinations of the loci demonstrated that c-src1(human) is highly related to chicken c-src and that c-src2(human) is slightly more divergent. The sequences imply that the final two coding exons of each human locus are identical in length to those of chicken c-src and that the location of an amber stop codon is unchanged in all three loci. c-src1(human) has been mapped to chromosome 20, and the second locus is located on chromosome 1. We conclude that c-src1(human) is the analog of c-src(chicken) and that the duplicated locus, c-src2(human), may also be expressed.  (+info)

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