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1.
Genet Couns ; 13(2): 151-6, 2002.
Article in English | MEDLINE | ID: mdl-12150215

ABSTRACT

We present clinical and cytogenetic data of a one year old boy with partial monosomy for both 21q and 18p, resulting from a de novo unbalanced translocation. The initial diagnosis of a seemingly full monosomy 21 was revised after fluorescence in situ hybridisation (FISH) with whole chromosome painting probes and a locus-specific chromosome 21 probe. The karyotype was reinterpreted as 45,XY,der(18)t(18;21)(p11.2;q22.1),-21. This karyotype, to our knowledge, has not been previously described. The boy presented with a spectrum of clinical features previously described for (partial) monosomy 18p only, for monosomy 21q only, or for both of these aneusomies. The radiological finding of a neuronal migration disorder with localised polymicrogyria (cortical dysplasia) has not been described for either monosomy before.


Subject(s)
Cell Movement/genetics , Chromosomes, Human, Pair 18 , Chromosomes, Human, Pair 21 , Monosomy/genetics , Neurons/cytology , Translocation, Genetic , Abnormalities, Multiple/genetics , Cerebral Cortex/pathology , Humans , In Situ Hybridization, Fluorescence , Infant, Newborn , Karyotyping , Magnetic Resonance Imaging , Male
2.
Pediatr Neurol ; 23(2): 170-2, 2000 Aug.
Article in English | MEDLINE | ID: mdl-11020645

ABSTRACT

A male carrying an interstitial deletion of chromosome 14, presumably del(14)(q11.2q13), and presenting with abnormal myelination on magnetic resonance imaging is described. The abnormal myelination was evidenced as a high-signal intensity on T(2)-weighted magnetic resonance imaging. The patient had severe neurologic signs, various dysmorphic features, and a marked microcephaly. To our knowledge, this case is the first patient reported with abnormal myelination and a deletion of chromosome 14.


Subject(s)
Chromosome Deletion , Chromosome Disorders/genetics , Chromosomes, Human, Pair 14/genetics , Microcephaly/genetics , Myelin Sheath/genetics , Child , Chromosome Disorders/diagnosis , Humans , Magnetic Resonance Imaging , Male , Microcephaly/diagnosis , Myelin Sheath/physiology
3.
Hum Pathol ; 31(7): 854-9, 2000 Jul.
Article in English | MEDLINE | ID: mdl-10923924

ABSTRACT

Follicular neoplasms of oncocytic type in the thyroid gland frequently cause diagnostic problems and prognostic uncertainties. To identify numerical chromosomal aberrations of possible pathogenetic importance, we determined chromosome copy numbers in situ in interphase nuclei of 31 oncocytic adenomas and 25 oncocytic carcinomas. Archival formaldehyde-fixed, paraffin-embedded tumor samples and normal control thyroid tissues were arranged in arrays and analyzed by fluorescence in situ hybridization (FISH). We used pericentromeric or locus specific probes for chromosomes 1, 7, 8, 9, 11, 12, 17, 18, 22, and X as well as for the oncogenes Her2/neu, cyclin D1, N-myc, and c-myc. The average number of aneusomies per nucleus was significantly higher in carcinomas than in adenomas, and in both, monosomies were more frequent than polysomies. Loss of chromosome 22 was found in 8 of 21 (38%) carcinomas; in 5 cases, it was associated with chromosome 2 monosomy. Conversely, chromosome 2 aberrations were not found in adenomas. Monosomies for chromosome 8 and X were detected in most adenomas and carcinomas. The most common gains in adenomas and carcinomas were for chromosome 7 (13.8% and 32.0% of the cases, respectively), chromosome 12 (9.6% and 12.0%), and chromosome 17 (19.3% and 32.0%). None of the adenomas with trisomy 17 was associated with gains for chromosomes 7 and 12. None of the analyzed oncogenes was found to be amplified by FISH analysis. Our results indicate that numerical chromosomal aberrations in oncocytic follicular tumors of the thyroid gland are common findings and suggest that different patterns of aberrations may occur in these neoplasms.


Subject(s)
Adenoma/genetics , Carcinoma/genetics , Chromosome Aberrations , Cytogenetics , Interphase , Thyroid Neoplasms/genetics , Adult , Aged , DNA Probes , Female , Humans , In Situ Hybridization, Fluorescence , Male , Middle Aged , Oncogenes
4.
Schweiz Med Wochenschr ; 117(51): 2061-73, 1987 Dec 19.
Article in German | MEDLINE | ID: mdl-3433090

ABSTRACT

Haplotypes for 7 flanking and 16 "intragenic" X-linked DNA polymorphisms were determined in 204 members of 31 families with Duchenne (DMD) and 27 members of 4 families with Becker type muscular dystrophy (BMD) and combined with CK and pedigree data to estimate carrier and fetal risks. All of the 27 younger female relatives of the familial cases (8 DMD, 2 BMD) could either be identified (11) or ruled out (16) as carriers with 95% or higher probability. Out of 49 possible carriers in the 23 DMD and 2 BMD families with isolated cases, 19 were classified as carriers and 18 as homozygote-normal females. In 3 families the mutation could be traced indirectly to a defined ancestor (mother, grand-parent), and in 5 families a molecular deletion was found. In all identified carriers and in medium risk females an informative DNA-constellation for prenatal predictions was present for at least one "intragenic" or two flanking markers. Prenatal DNA-investigations were carried out during pregnancy in 9 possible DMD carriers. There was one termination due to an XYY karyotype. Of the remaining 8 cases, the carrier state could be ruled out in 4 mothers, the fetal sex was female in another 3, and one male fetus was predicted normal. All babies (3 boys, 5 girls) are healthy. The practical significance of these findings with regard to the prevention of DMD/BMD and the present diagnostic strategies are discussed.


Subject(s)
DNA/analysis , Genetic Carrier Screening , Muscular Dystrophies/genetics , Child , Creatine Kinase/blood , DNA/genetics , Female , Genetic Code , Humans , Male , Pedigree , Polymorphism, Genetic , Prenatal Diagnosis , Probability
5.
Hum Genet ; 77(3): 267-8, 1987 Nov.
Article in English | MEDLINE | ID: mdl-2890571

ABSTRACT

A family of an isolated patient with Becker muscular dystrophy has been investigated by DNA analysis. Southern blotting and hybridization were performed with six probes (C7, pERT87.15, pERT87.1, pXJ1.1, pXJ2.3, 754) mapping in the Xp21 region. A deletion within the pXJ region was demonstrated in the proband, his mother and all three sisters. The segregation pattern for the restriction fragment length polymorphisms (RFLPs) observed with the pXJ probes as well as with pERT87.15, pERT87.1 and 754 probes indicates that the deletion is of grandpaternal origin.


Subject(s)
Chromosome Deletion , Muscular Dystrophies/genetics , X Chromosome , Child , Chromosome Mapping , Female , Genetic Markers , Humans , Male , Pedigree , Polymorphism, Restriction Fragment Length
7.
In Vitro ; 20(3 Pt 1): 172-82, 1984 Mar.
Article in English | MEDLINE | ID: mdl-6370835

ABSTRACT

Monolayer cultures were prepared from hepatocytes of 15 d chick embryos and maintained at high cell density in a chemically defined medium. In the absence of growth stimulatory conditions DNA synthesis was observed only during the first 10 to 16 h of culture. Thus, after a 12 h exposure to [3H]thymidine ([3H]dThd, 4 to 16 h) 9.1 +/- 1% (mean +/- SD, n = 4) of the hepatocyte nuclei were labeled. Labeled mitotic nuclei, up to late telophase, were regularly observed in these cultures. Beyond 16 h less than 2% labeled nuclei were found (12 h of [3H]dThd), which indicates that the hepatocytes entered proliferative quiescence. DNA synthesis of "resting" hepatocytes was stimulated by insulin and, only slightly, by hydrocortisone, glucagon, or fetal bovine serum. Triiodothyronine (T3), or the nucleoside inosine (i) did not stimulate. Combination of insulin (I) with hydrocortisone (H), T3 (T), or glucagon (G) resulted in a more than additive effect. Nearly maximal stimulation occurred with the combinations IHT and ITG. Labeling increased at 10 ng/ml of each component and was maximal at 1 to 10 micrograms/ml. A lag period of 8 to 10 h after hormone administration (IHiTG, 10 micrograms/ml) was observed before nuclear labeling increased. Within the subsequent 10 h a considerable proportion of the hepatocytes (up to 30% or more) entered DNA synthesis. Mitotic activity (with nuclei in prophase up to late telophase) also was stimulated. An increase of both total DNA and protein content was measured in several experiments. Hormonal stimulation of hepatocyte DNA synthesis and mitotic activity was associated with decreased beta-naphthoflavone-mediated induction of cytochrome P450. A causal relationship between these two phenomena remains to be established. It is suggested that chick embryo hepatocyte cultures are a useful tool for studies on hepatocyte proliferation and differentiation.


Subject(s)
Cytochrome P-450 Enzyme System/biosynthesis , DNA/biosynthesis , Liver/cytology , Mitosis , Animals , Benzoflavones/pharmacology , Cells, Cultured , Chick Embryo , Cytochrome P-450 CYP1A1 , Enzyme Induction , Glucagon/pharmacology , Hydrocortisone/pharmacology , Hydroxyurea/pharmacology , Inosine/pharmacology , Insulin/pharmacology , Liver/enzymology , Liver/metabolism , Oxidoreductases/biosynthesis , Protein Biosynthesis , Triiodothyronine/pharmacology , beta-Naphthoflavone
8.
Ciba Found Symp ; 76: 101-18, 1980.
Article in English | MEDLINE | ID: mdl-6906260

ABSTRACT

Two aspects of the induction of microsomal monooxygenases by phenobarbitone have been investigated. First, structural associations between mitochondria and single cisternae of rough endoplasmic reticulum (mitochondria--RER complexes) may operate as functional units in the biosynthesis of cytochrome P-450. This was deduced from (i) studies on the subcellular distribution of the phenobarbitone-induced incorporation of leucine into microsomal proteins including apocytochromes P-450 and (ii) the incorporation of labelled delta-aminolaevulinic acid into the haem prosthetic group of cytochrome P-450. Secondly, in hepatocytes from chick embryo in primary monolayer culture, induction of cytochrome P-450-haemoproteins was markedly influenced by changes in the proliferative activity of hepatocytes. Inducibility of cytochrome P-450 by phenobarbitone and by beta-naphthoflavone was decreased in cultures with 'spontaneous' or experimentally increased proliferative activity of hepatocytes. Treatment with inhibitors of DNA synthesis increased the induction response.


Subject(s)
Cytochrome P-450 Enzyme System/biosynthesis , Liver/enzymology , Microsomes, Liver/enzymology , Mixed Function Oxygenases/biosynthesis , Phenobarbital/pharmacology , Aminolevulinic Acid/metabolism , Animals , Cells, Cultured , Chick Embryo , Endoplasmic Reticulum/enzymology , Heme/biosynthesis , Hemeproteins/biosynthesis , Liver/drug effects , Liver/ultrastructure , Male , Mitochondria/enzymology , Rats
10.
J Cell Biol ; 62(2): 305-15, 1974 Aug.
Article in English | MEDLINE | ID: mdl-4214821

ABSTRACT

In cultures of a murine mastocytoma, endogenous synthesis of thymidine phosphates, as determined by the incorporation of [(3)H]deoxyuridine into DNA, was reduced within 15 min to less than 3% of control values by the addition of amethopterin (10 microM) in combination with hypoxanthine and glycine. If [(3)H]thymidine and unlabeled thymidine were added simultaneously with amethopterin, the increase with time of radioactivity in cellular DNA was linear at least between 30 and 90 min, while radioactivity in the acid-soluble nucleotide fraction remained constant during this time interval, indicating that intracellular thymidine nucleotides had the same specific activity as exogenously supplied [(3)H]thymidine. This permitted calculation of the amount of thymidine incorporated per hour into DNA of 10(6) cells. In conjunction with the base composition of mouse DNA, these results were used to calculate rates of DNA synthesis. Cell proliferation rate, cell cycle time, and the duration of the S period were not affected to any appreciable extent by the addition of amethopterin and thymidine. Rates of DNA synthesis, as derived from thymidine incorporation rates, were in good agreement with those derived from the measured mean DNA content of exponentially multiplying cells and rates of cell proliferation.


Subject(s)
Cells, Cultured/metabolism , DNA/biosynthesis , Animals , Autoradiography , Cell Division/drug effects , Cell Line , DNA, Neoplasm/biosynthesis , Deoxyuridine/metabolism , Kinetics , Mast-Cell Sarcoma/metabolism , Methotrexate/pharmacology , Mice , Mitosis/drug effects , Neoplasm Transplantation , Thymidine/metabolism
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