Renal function studies in an infant with 4p (-) syndrome.
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An infant with the syndrome of deletion of the short arm of chromosome 4 is described. In addition, this child had renal insufficiency, which is found rarely in association with the 4p(--) syndrome. Previous reports of this syndrome have described only isolated gross structural abnormalites of the urinary tract. In the case discussed here, we present clinical and functional data which indicate that this patient had bilateral renal dysplasia. (+info)
Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes.
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The techniques of somatic cell genetics have been used to establish the linkage relationships of loci coding for two forms (A and B) of hexosaminidase (EC 3.2.1.30; 2-acetamido-2-deoxy-beta-D-glucoside acetamidodeoxyglucohydrolase) and to determine whether a structural relationship exists between these forms. In a series of human-mouse hybrid cell lines, hexosaminidase A and B segregated independently. Our results and those reported by other investigators are used to analyze the proposed structural models for hexosaminidase. We have also been able to establish a syntenic relationship between the gene locus responsible for the expression of hexosaminidase A and those responsible for mannosephosphate isomerase and pyruvate kinase-3 and to assign the gene for hexosaminidase B to chromosome 5 in man. There is thus a linkage between specific human autosomes and enzymes implicated in the production of lipid storage diseases. (+info)
Genetic analysis of the cell surface: association of human chromosome 5 with sensitivity to diphtheria toxin in mouse-human somatic cell hybrids.
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Diphtheria toxin inhibits protein synthesis in eukaryotic cells by catalyzing inactivation of elongation factor 2. The 10,000-fold greater sensitivity in vitro to diphtheria toxin of human cells as compared to mouse cells seems to be attributable to a difference at the level of the cell membrane. Mouse-human cell hybrids are as sensitive to diphtheria toxin as human cells. We have shown that the sensitivity of the hybrid cells is due to a gene or genes located on human chromosome 5. Mouse-human hybrid cells in which chromosome 5 is present are as sensitive to the toxin as human cells, which hybrids without chromosome 5 are as resistant as mouse cells. Entry of toxin into cells seems to be a two-step process involvin, (1) binding of toxin to the cell surface and (2) endocytotic uptake of toxin. The difference in sensitivity between human and mouse cells and between hybrid cells with and without chromosome 5 does not appear to be due to a difference in endocytotic activity and may be due to presence or absence of toxin-specific receptor. (+info)
Fanconi's aplastic anaemia with short stature. Absence of response to human growth hormone.
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A patient with idiopathic marrow hypoplasia associated with short stature and other anomalies (Fanconi's anaemia) is described: treatment with human growth hormone for one year did not accelerate his growth rate or significantly affect his anaemia: androgen treatment considerably improved both features. Endocrine studies suggest that though he had poor and insufficient production of endogenous growth hormone to insulin-induced hypoglycaemia, the major defect in this syndrome is determined more at the end-organ than at the pituitary or gonadal level. (+info)
A new hematologic syndrome with a distinct karyotype: the 5 q--chromosome.
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Five patients, four women and one man, age 32-8- yr, all whites, had refractory anemia with the same abnormal bone marrow karyotype, i.e., a partial deletion of the long arm of the No. 5 chromosome. The hematologic syndrome was practically the same in these five cases. Examination of the blood revealed a moderate to severe, generally macrocytic anemia with slight leukopenia but normal or elevated platelet count. The bone marrow showed a depressed erythroid series and some abnormalities of the granulocytic series with an occasional excess of myeloblasts. Most of the megakaryocytes had a nonlobulated nucleus. These features, as well as cytogenetic, electron microscopic, isotopic, platelet function, and immunologic studies, are described in detail. The relationship of this newly established syndrome to other hematologic diseases is discussed. The syndrome constitutes another example of the association between a specific abnormal chromosome and a distinct hematologic disorder. (+info)
Partial trisomy for the long arms of chromosome no. 5 due to insertion and further 'aneusomie de recombinaison'.
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Five members of a family with a balanced insertion (1;5)(q32;q11q22) are presented. The daughter of one of them shows multiple malformations and a partial trisomy for the long arms of chromosome No. 5 (5q11 to 5q22 segment) resulting from a 'aneusomie de recombinaison' in her mother. The propositus' karyotype is 46,XX,rec(1;5)ins (1;5)(q32;q11q22). This case is the first reported example of an insertion between two chromosomes followed by 'aneusomie de recombinaison'. It also is the first reported case of trisomy invovling the long arms of chromosome No. 5. (+info)
Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.
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Five cases of chromosome imbalance resulting from 3:1 disjunction of reciprocal translocations are described. A review of the literature suggests this phenomenon is more common than has previously been recognized. (+info)
Chromosomal banding patterns in acute nonlymphocytic leukemia.
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Bone marrow chromosomes obtained from 50 of 55 consecutive adult patients with acute nonlymphocytic leukemia were analyzed with quinacrine fluorescence. Twenty-five patients showed a normal karyotype and 25 an abnormal karyotype on the initial samples available for analysis. Among the 25 patients with abnormalities, the marrow cells contained 48 chromosomes in one case, 47 in two, 46 in ten, 45 in nine, 43 in two, and 42 chromosomes in one case. Seven of the ten patients with 46 chromosomes had abnormalities, primarily balanced translocations, that were not detected with the standard Giemsa stains. The analysis of all of the data available revealed the presence of nonrandom chromosome changes such as the addition of No. 8, the loss of No. 7, and a gain or loss of one No. 21. the most frequent structural rearrangement was the translocation between the long arm of No. 8 and No. 21, which may also be associated with the loss of a sex chromosome. Chromosomal abnormalities decreased or disappeared during remission; the same abnormality recurred in relapse. Chemotherapy did not appear to produce a stable clone of aberrant cells. Evolution of the karyotype occurred in eight patients, in five of whom an additional No. 8 was observed. This pattern of chromosomal evolution in patients with acute leukemia was very similar to that observed in patients with chronic myelogenous leukemia in the blast phase. (+info)