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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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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
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 ...