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  • 1
    Electronic Resource
    Electronic Resource
    Disomic homozygosity in 21-trisomic cells: a mechanism responsible for transient myeloproliferative syndrome (1989)
    Springer
    Human genetics 〈Berlin〉 82 (1989), S. 313-316 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Nine patients with transient myeloproliferative syndrome (TMS) with or without Down syndrome (DS) phenotype were studied cytogenetically, particularly with regard to the origin of trisomy 21. Of six DS patients, five had standard trisomy 21 and one a mosaic consisting of 21-tetrasomic, trisomic and disomic cell lines. The other three non-DS patients were mosaics with both 21-trisomic and-disomic cell lines. In all nine patients, the leukemoid cells in TMS stage were largely or exclusively composed of trisomy or tetrasomy 21, an indiction that the additional chromosome(s) 21 plays an important role in the occurrence of TMS. Sequential Q-and R-banding analysis of heteromorphisms demonstrated that all these patients had a duplication of a chromosome 21, as revealed by an “aab” pattern, regardless of DS or normal phenotype or parental origin of the extra chromosome 21. Irrespective of the possibility of recombination, the “aa” chromosomes are homozygous, i.e. show disomic homozygosity: this may in turn result in the duplication of a gene that controls the proliferation of the myelogenous cells, thereby leading to TMS.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273988
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  • 2
    Electronic Resource
    Electronic Resource
    Cell type-dependent difference in the distribution and frequency of aphidicolin-induced fragile sites: T and B lymphocytes and bone marrow cells (1989)
    Springer
    Human genetics 〈Berlin〉 84 (1989), S. 71-74 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The distribution and frequency of aphidicolin-induced common fragile sites were studied in Epstein-Barr virus-transformed B lymphocytes from eight normal individuals, and in bone marrow cells from six children in remission from malignant blood diseases. PHA-stimulated helper T lymphocytes from the same individuals were also studied. These cells were cultured in MEM, and treated with 0.2μM aphidicolin for 26 h. The results, together with those of our previous study on cultured skin fibroblasts, indicated that the distribution and frequency of aphidicolin-induced fragile sites are different among different types of cells.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210675
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  • 3
    Electronic Resource
    Electronic Resource
    Possible mapping of the gene for transient myeloproliferative syndrome at 21q11.2 (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 561-566 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The parental origin of the extra chromosome 21 was studied in 20 patients with trisomy 21-associated transient myeloproliferative syndrome (TMS) using chromosomal heteromorphisms as markers; this was combined with a study of DNA polymorphisms in 5 patients. Of these, 10 were shown to result from duplication of a parental chromosome 21, viz., maternal in 8 and paternal in 2. A patient with Down syndrome-associated TMS had a paracentric inversion in two of his three chromosomes 21 [47,XY,-21, +inv(21)(q11.2q22.13)mat, +inv(21)(q11.2 q22.13)mat). These findings support our hypothesis of “disomic homozygosity” of a mutant gene on chromosome 21 in 21-trisomic cells as being a mechanism responsible for the occurrence of TMS. The finding also suggests that the putative TMS gene locus is at either 21q11.2 or 21q22.13, assuming that the gene is interrupted at either site because of the inversion. The study of 5 TMS patients using DNA polymorphic markers detected a cross-over site on the duplicated chromosomes 21 between 21q11.2 (or q21.2) and 21q21.3 in one patient, and a site between 21q21.3 and q22.3 in another patient, evidence that confined the gene locus to the 21cen-q21.3 segment. These findings suggest that the putative TMS gene is located at 21q11.2. The extra chromosome 21 in the latter two TMS patients probably resulted from maternal second meiotic non-disjunction, in view of the presence of recombinant heterozygous segments on their duplicated chromosomes 21.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00209012
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  • 4
    Electronic Resource
    Electronic Resource
    A long Y chromosome in man (1963)
    Springer
    Chromosoma 14 (1963), S. 154-161 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary An unusually long Y chromosome was described in the phenotypically normal father and paternal grandfather of a girl with Down's syndrome, and likewise in a male infant with multiple malformations and his father, normal in phenotype. Measurements revealed that the long Y chromosome corresponded in length to autosomes of group 16–18. Information was obtained to show that the increased length of the Y chromosome was an inheritable character, and that a long Y chromosome was not always associated with an abnormal phenotype (or phenotypes).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00336757
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  • 5
    Electronic Resource
    Electronic Resource
    Chromosome aberrations in leucocytes of patients with aseptic meningitis (1965)
    Springer
    Chromosoma 16 (1965), S. 372-380 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Three patients with aseptic meningitis and two patients with scarlet fever were subjected to chromosome analysis in cultured leucocytes. Information was obtained that leucocytes of the aseptic meningitis patients exhibit random and non-specific chromosome aberrations significantly higher in frequency than the control series from scarlet fever patients. The most common type of the aberration observed was a single chromatid break including a full break in one chromatid. Isochromatid-type breaks, chromatid- and chromosome-type interchanges and acentric fragments were observed less frequently.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00326000
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  • 6
    Electronic Resource
    Electronic Resource
    Technique for Investigation of Sex Chromatin in Amniotic Membrane of Rat Foetuses (1967)
    [s.l.] : Nature Publishing Group
    Nature 214 (1967), S. 499-500 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] We have tried fixing the membrane with 95 per cent ethanol, and staining with cresyl violet or with lactic acetic orcein. Both these techniques have been unsatisfactory in our hands. To overcome these difficulties we have used a quick squash technique, which has given satisfactory results. This ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/214499b0
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  • 7
    Electronic Resource
    Electronic Resource
    Octocentric Human Ring Chromosome ( Xr ): Proposed Mechanism of Formation (1968)
    [s.l.] : Nature Publishing Group
    Nature 219 (1968), S. 1071-1072 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] A number of descriptions of self-perpetuating ring chromosomes in man have been published (review in ref. 10). To our knowledge, seven instances have been reported in which a cell line exhibits a ring form of an X chromosome, as we have observed. Buccal smears and leucocyte cultures were made from ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/2191071a0
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  • 8
    Electronic Resource
    Electronic Resource
    Incontinentia pigmenti and X-autosome translocations (1989)
    Springer
    Human genetics 〈Berlin〉 81 (1989), S. 269-272 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Incontinentia pigmenti (IP) is a rare X-linked disease with marked female-to-female transmission and a dominant pattern of inheritance. Reports of six unrelated females with IP and X-autosomal translocations, all with the X breakpoint at Xp11, and an additional report of a female with IP and a 45,X/46,X,r(X) karyotype suggests that this may be the locus for the IP gene. When four of these cases, including the r(X), were re-examined with a non-isotopic in situ hybridization technique and an X centromere-specific probe (pSV2X5), the Xp11 breakpoint was confirmed. However, results from a fifth reported case, t(X;17), showed that the X breakpoint was within the centromeric alphoid repetitive sequences recognized by the probe pSV2X5. As the clinical presentation of this patient was consitent with the IP phenotype and diagnosis, the centromeric position of the X-chromosome breakpoint raises several questions with respect to the homogeneity of the Xp11 locus for IP.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00279002
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  • 9
    Electronic Resource
    Electronic Resource
    Dispermic origin of XY hydatidiform moles (1981)
    [s.l.] : Nature Publishing Group
    Nature 292 (1981), S. 551-552 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] The macroscopic and microscopic findings of the four XY moles were indistinguishable from those of XX moles. The karyotypes of cells cultured from the molar tissue of the four patients were 46,XY. Q- and R-band chromosome hetero-morphisms2, histocompatibility leukocyte antigen (HLA) specificities, ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/292551a0
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  • 10
    Electronic Resource
    Electronic Resource
    Androgenetic origin of hydatidiform mole (1977)
    [s.l.] : Nature Publishing Group
    Nature 268 (1977), S. 633-634 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Karyotyping was done on 20 moles: in 13 cases on uncultured villi, in three cases on cultured villi and in the other four cases on both cultured and uncultured villi. Ten moles were of Caucasian origin and ten were of Japanese origin. All had a 46,XX karyotype. The mode of inheritance of molar ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/268633a0
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