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  1. No Access

    Article

    Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita

    We report a 2-year-old boy with Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GK) and adrenal hypoplasia congenita (AHC). At three weeks of age, the patient was hospitalized for the first time...

    M. Stuhrmann, H. Heilbronner, A. Reis, R. -D. Wegner, P. Fischer… in Human Genetics (1991)

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    Article

    The 11q;22q translocation: A collaborative study of 20 new cases and analysis of 110 families

    Following a previous collaborative study (Fraccaro et al. 1980), 20 new cases of 11q;22q translocation are described. Twelve families were ascertained through an unbalanced carrier of the translocation and eig...

    L. Iselius, J. Lindsten, A. Aurias, M. Fraccaro, C. Bastard… in Human Genetics (1983)

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    Article

    A new inducible fragile site on chromosome 3(p14.2) in human lymphocytes

    A fragile site on chromosome 3(p14.2) was found in lymphocytes of two unrelated patients. Expression of the trait with 6%–18% affected cells could only be demonstrated under culture conditions favouring a low ...

    R. -D. Wegner in Human Genetics (1983)

  4. No Access

    Article

    Activity of rRNA genes in cells of a patient with Down syndrome mosaic

    Disomic and trisomic cells of a patient with Down syndrome mosaic were used to study the effect of the additional chromosome 21 against an identical genetic background. The frequency of Ag staining and the par...

    R. -D. Wegner, P. Aldenhoff, K. Sperling in Human Genetics (1980)

  5. No Access

    Article

    Frequency and distribution of sister-chromatid exchanges in a case of Fanconi's anemia

    In lymphocytes of a 7-year-old boy with Fanconi's anemia the frequencies and sites of sister-chromatid exchanges (SCE) were studied with the BrdU-Giemsa method. The average frequency of SCE (8.8 per metaphase)...

    K. Sperling, R.-D. Wegner, H. Riehm, G. Obe in Humangenetik (1975)

  6. No Access

    Article

    Relative DNA content of human euchromatin and heterochromatin after G, C and giemsa 11 banding

    Human chromosomes and interphase nuclei labeled with 3H-thymidine and treated with the ASG and trypsin technique for G banding show no DNA loss. However, after G11 and C banding significantly more DNA is removed ...

    H. Schmiady, R. -D. Wegner, K. Sperling in Humangenetik (1975)