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Journals and Conferences
In most species, continuous administration of GnRH agonists desensitizes the pituitary to GnRH, and blocks ovarian function. The aim of this study was to assess the effects of a novel controlled release device containing azagly-nafarelin (Gonazon) to prevent puberty in young Beagle bitches (mean age: 4.88 +/- 0.32 months). Gonazon containing 18.5 mg… (More)
Clinical and laboratory data are presented for two patients with a dyshaematopoietic disorder, and monosomy 7 in their bone marrow cells. The first patient, a 55-year-old woman, had been treated with chlorambucil for an ovarian carcinoma. After 4 years an oligoblastic myeloid leukaemia was diagnosed and she later died with an acute transformation of the… (More)
The clinical and cytogenetic data are presented of four children with Bloom's syndrome, who belong to two unrelated Dutch families. The patients showed, in varying degrees, the clinical features most characteristic of the syndrome: stunted growth; telangiectatic facial erythema; sun-sensitivity of the skin; and decreased immuno-competence. In one child the… (More)
For the identification of an extra chromosome in a female child a number of recently developed staining techniques were used. The extra element found in 86% of the patient's peripheral lymphocytes resembles an isochromosome for the short arm of chromosome No. 9, in which case a tetrasomy for this arm would exist. The clinical findings in our patient were… (More)
This report concerns a trisomy 4p in a mentally retarded girl with multiple congenital anomalies. A translocation between chromsomes Nos. 4 and 15 was discovered in three generations of the patient's pedigree.
A translocation between a chromosome 15 and a chromosome 17 was found in the bone marrow of a 14-year-old boy who had clinical and laboratory symptoms of acute promyelocytic leukemia (APL). As far as we know, this is the sixth case of APL with 15/17 translocation to be reported in the literature. This observation gives further support to the hypothesis that… (More)
This report concerns a de novo reciprocal translocation between the long arms of the chromosomes 12 and 19 in a mentally retarded child with bilateral radioulnar synostosis, agenesis of the corpus callosum, and several minor congenital malformations.
The case of a mentally retarded girl with a number of dysmorphic features, Raynaud's phenomenon, hypotonia and petit mal seizures is presented. Laboratory investigations showed α-aminoadipic aciduria and a high level of fetal haemoglobin. Oral l-lysine loading resulted in a marked increase of α-aminoadipic acid in blood and urine. After 3 months of… (More)