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1.
J Genet Hum ; 33(2): 179-86, 1985 Jun.
Article in French | MEDLINE | ID: mdl-3860627

ABSTRACT

In an infant considered at birth as a female but with easily palpable gonads in the labia major, the XY karyotype and the endocrine studies (determination of plasma levels of steroid hormones under basal conditions and during hCG stimulation) were consistent with the diagnosis of male pseudohermaphroditism due to 17-keto reductase deficiency. During the second pregnancy an amniocentesis revealed a 46 XY karyotype. Endocrine studies performed on the amniotic fluid at midgestation suggested that the fetus was affected by the same enzyme defect. After birth, the diagnosis was demonstrated with anatomical an endocrine studies.


Subject(s)
17-Hydroxysteroid Dehydrogenases/deficiency , Disorders of Sex Development/enzymology , Prenatal Diagnosis , 17-alpha-Hydroxyprogesterone , Amniocentesis , Androstenedione/blood , Chorionic Gonadotropin , Disorders of Sex Development/diagnosis , Humans , Hydroxyprogesterones/blood , Infant, Newborn , Karyotyping , Male , Testosterone/blood
2.
Nouv Rev Fr Hematol (1978) ; 25(5): 329-35, 1983.
Article in French | MEDLINE | ID: mdl-6657484

ABSTRACT

A registry of malignant haematological diseases was established on January 1st 1980 in order to assess the incidence and epidemiologic features of these diseases in the department of Côte-d'Or (population 470 000). Information was collected from various sources (public or private laboratories, public or private hospitals and death certificates). During the course of two years (1980 and 1981) 194 news cases were recorded. This registry collects acute leukaemia, lymphoid and myeloid proliferative diseases, lymphomas in leukaemic phase and myelodysplastic syndromes. The crude incidence rates were 25.0/100,000 in men and 16.1/100,000 in women. Sex ratio : 1.5. Compared to other French population based registries the incidence is higher in Côte-d'Or, showing the value of specialised registries. The rates are similar to those reported in Geneva and Connecticut.


Subject(s)
Hematologic Diseases/epidemiology , Leukemia/epidemiology , Registries , Acute Disease , Adult , Age Factors , Aged , Child , Female , France , Hematologic Diseases/mortality , Humans , Leukemia/mortality , Leukemia, Lymphoid/epidemiology , Lymphoproliferative Disorders/epidemiology , Male , Middle Aged , Myeloproliferative Disorders/epidemiology , Sex Factors
3.
C R Seances Soc Biol Fil ; 176(1): 39-44, 1982.
Article in French | MEDLINE | ID: mdl-6461393

ABSTRACT

A short-term method for detecting potential environmental carcinogens is described using in vitro transformation assay of human epithelial-like amniotic fluid cells. According to Styles, after a short exposition to the carcinogen, only transformed cells grow and form large colonies when cultured in semi-solid agar. In our assay addition of liver homogenate was not necessary to activate the carcinogens. Nevertheless adjunction to the exposure medium of human fecalase (after Ames) is advised for studying carcinogenicity of food glycosides. Fecalase efficiency in metabolic activation of glycosidic compounds has been demonstrated in the use of 8-hydroxyquinoline-beta-D-glycopyranoside.


Subject(s)
Amniotic Fluid/drug effects , Carcinogens , Cell Transformation, Neoplastic , Environmental Pollutants/pharmacology , Proteins/pharmacology , Adult , Biotransformation , Cell Survival/drug effects , Cells, Cultured , Drug Evaluation, Preclinical/methods , Feces , Female , Humans , Liver/physiology , Oxyquinoline/analogs & derivatives , Oxyquinoline/pharmacology , Pregnancy
4.
Cell Biol Int Rep ; 4(5): 459-69, 1980 May.
Article in English | MEDLINE | ID: mdl-7397787

ABSTRACT

Using G-banding technique, the karyotypes of nine liver epithelial cell lines from Wistar rats cultivated under standard conditions were studied in early successive passages. Preferential involvement of chromosome n 1 abnormalities including numerical and structural changes appeared at about the 14th passage. These apparently nonrandom chromosome changes have been compared with those found in neoplastic cell lines.


Subject(s)
Cell Line , Chromosome Aberrations , Chromosomes , Liver , Animals , Chromosome Banding , Epithelium , Karyotyping , Ploidies , Rats , Translocation, Genetic , Trisomy
6.
Article in French | MEDLINE | ID: mdl-7217638

ABSTRACT

The authors report five cases of fertile women who have Karyotype XO. After a short review of the classification of Turner's syndrome and of the physiopathology of the defective gonads in these patients, 79 cases in the literature and these 5 cases were reviewed and they allow us: a precise description of the morphology of these patients, which is dominated by the high incidence of small growth and the presence of the various degrees of malformations often found in Turner's syndrome; to study the gonad structure and function of these patients who have spontaneous menstruation. And finally to analyse the prognosis of pregnancies that have occurred in 33 women with an XO clone. These women have not only a raised incidence of spontaneous abortions at 32% but also frequent fetal malformations and chromosome abnormalities in the products of conception. It is therefore vital to carry out early amniocentesis in these patients.


Subject(s)
Pregnancy Complications , Turner Syndrome/genetics , Abnormalities, Multiple , Abortion, Spontaneous/etiology , Female , Fertility , Genitalia, Female/pathology , Humans , Infant, Newborn , Karyotyping , Male , Menstruation , Mosaicism , Pregnancy , Sex Chromosomes/analysis
7.
Cancer Res ; 39(12): 5141-6, 1979 Dec.
Article in English | MEDLINE | ID: mdl-498142

ABSTRACT

A cell line designated as BV9 was established in culture from a transplantable rat stomach cancer, which was originally induced in the glandular stomach of a Wistar rat by p.o. administration of N-methyl-N'-nitro-N-nitrosoguanidine. The monolayer cells, which have been subcultured for more than 35 passages, revealed pleomorphic features. Chromosomal analysis showed hypertetraploidy (mode, 95), and marker chromosomes were present. Cultured cells were injected s.c. into cyclophosphamide-conditioned syngeneic rats and produced tubular adenocarcinomas resembling the original tumor.


Subject(s)
Cell Line , Methylnitronitrosoguanidine , Stomach Neoplasms , Animals , Chromosome Aberrations , Male , Neoplasm Transplantation , Neoplasms, Experimental/chemically induced , Rats , Stomach Neoplasms/chemically induced , Stomach Neoplasms/genetics , Stomach Neoplasms/pathology , Transplantation, Homologous
10.
Clin Genet ; 11(1): 39-42, 1977 Jan.
Article in English | MEDLINE | ID: mdl-830447
12.
Ann Genet ; 18(3): 185-8, 1975 Sep.
Article in French | MEDLINE | ID: mdl-1080981

ABSTRACT

Two cases of partial trisomy 11q are reported, both apparently due to segregation in both patients' families of the same translocation between a n degrees 11 and a n degrees 22. R-, T-, and G- banding showed the breakage points to be 11q231 and 22q111. The clinical syndrome results from trisomy for the q231 leads to qter segment of chromosome 11.


Subject(s)
Chromosome Aberrations , Chromosome Disorders , Translocation, Genetic , Trisomy , Abnormalities, Multiple , Child, Preschool , Chromosomes, Human, 21-22 and Y , Chromosomes, Human, 6-12 and X , Female , Humans , Infant , Male
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