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Chapter
Cytogenetic and Molecular Investigations in Chromosomal Instability Syndromes
In a number of genetic disorders with an autosomal recessive mode of inheritance, increased spontaneous and/or induced chromosomal instability has been found. The knowledge of the underlying gene mutations and...
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Chapter
Chorionic Villi Analysis
Since the mid-1980s, chorionic villi sampling in the first trimenon of pregnancy (CVS I) has gained increasing acceptance for prenatal diagnosis of fetal genetic diseases. The tissue sampling is performed in t...
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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...
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Chapter
Chromosomal Instability Syndromes in Man
One main aim of mutagenesis research is to evaluate the potential genetic hazard of physical or chemical agents to human beings. In many countries risk assessment of a supposed mutagen is strictly regulated de...
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Chapter
Zelldifferenzierung
Mit dem „Kleinen Blutbild“ werden die relevanten quantitativen Parameter: Hämoglobinkonzentration, Erythrozyten-, Leukozyten- und Thrombozytenzahl, Hämatokrit und die Erythrozytenindizes erfaßt. DasDifferentialbl...
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Chapter
Abstracts of Selected Posters
The analysis of chromosomes of mouse embryos permits detection of transmitted chromosome damage. The protocol involves the treatment of one parent (usually the male) with a clastogen, recovery of embryos and p...
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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...
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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 ...
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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...
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Article
Familial trisomy 9p and spinal muscular atrophy: Clinical, cytogenetic and embryological findings
The pre- and postnatal clinical, cytogenetic and embryological findings in a family suffering from trisomy 9p and spinal muscular atrophy are presented.
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Article
A simple staining technique to demonstrate chromosomal DNA replication
With the BrdU technique here described, Giemsa stained metaphases with either early or late, replicational patterns can be obtained within 1 day after cell harvesting, showing a better resolution than3H-thymidine...
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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)...
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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 ...
