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Biomedical subjects

J F Mattei

Publications and source records attributed to J F Mattei.

At least 37 records · Page 2Linked to original sources
PubMed1977

A girl with mosaicism for a dicentric X chromosome (45,X/46,X,dic(X) (Xqter to p22::p22 to qter)).

A 12-year-old girl was examined for growth retardation and a few very discrete dysmorphologic stigmata of Turner's syndrome; the genitalia were infantile yet both ovaries possessed functioning follicles. R- and C-banding techniques and Brdu treatment demonstrated a 45,X formula in 95% of lymphocytes, with 5% presenting a 46,X,dic(X) formula. Cytogenetic and clinical problems raised by this observation are discussed in relation to data from the literature.

Child↗
PubMed1977

Four new cases of Dicentric Y chromosomes.

Dicentric Y chromosomes are rare in man. Four new cases of dicentric Y chromosomes are described. The cases of the literature so far reported are reviewed. Among the cases, a wide range of variation in phenotype, external genitalia, histology, and chromosomal findings was observed. The relationship of the clinical picture and structural abnormalities of the Y chromosomes is discussed.

Adolescent↗
PubMed1977

Subacute myelocytic leukemia associated with the philadelphia chromosome and supplementary translocation : 9-12.

The authors report a case of subacute myelocytic leukemia presenting some severe aspects. The cytogenetic findings show the Philadelphia chromosome ; t (9-22) and a second translocation between the chromosome 12, and the other chromosome 9 : t (9-12). They think that this second translocation represents a supplementary cytogenetic argument for the isolation of "Subacute myeloid Leukemia with Philadelphia chromosome" within chronic myeloid Leukemia.

Chromosome Aberrations↗
PubMed1977

[Partial trisomy 13 due to maternal translocation t(2;13)].

The authors report an observation of partial trisomy 13p13 leads to qter and suggest a clinical map of chromosome 13. Increase of fetal hemoglobin seems to be controlled by region 1 of 13q. Bands q13 q14 and q21 seem to be responsible for inner organ malformations. Lastly, the distal segment q22 leads to qter is responsible for trigonocephaly and limb abnormalities.

Chromosome Mapping↗
PubMed1977

[Refractory sideroblastic anemia, three cases with the same extra marker chromosome (47, Mar +) (author's transl)].

Three very similar cases of sideroblastic idiopathic anemia were respectively observed for 105, 57 and 69 months. The cytogenetic blood study was normal. But the medullary genetic findings showed marker extra-chromosome, having the same aspect in each metaphase = 47 Mar +. It was respectively found in 13 mitoses/32, 2/45 and 1/30. The study of chromosome showed that it was not a normal cytogenetic C-chromosome at all, even it seemed to be a C - X type chromosome at first. The long arms had about the same size as the one of the C- type. But the short arms were really shorter. The study on R- bands showed a chromosomic marking unkown so far. The cytogenetic abnormalities described during the sideroblastic idiopathic anemias, the rare sideroblastic idiopathic anemias where were found a C- type chromosome really identified, then the well-defined myeloproliferative disorders having an extra- C chromosome, have been looked over again through the litterature. In each of our three studies we can think that these myelodysplasia are real mysloproliferative disorders because of the same marker extra-chromosome, but even after nine months we did'nt observe any chromosomal sign of blastic transformation.

Aged↗
PubMed1977

[Clouston's ectodermal dysplasia. A case report with biochemical study of keratin].

One familial case of ectodermal dysplasia of the Clouston's type is reported. The clinical picture consisted of hypotrichosis and dysonychia with normal sweating. The disease follows dominant autosomal transmission. Histologically, keratin was slightly abnormal. The biochemical study of keratin of hair and nails showed diminished cysteine.

Child↗
PubMed1976

Constitutional chromosomal breakage.

There were 18 individuals found to have a constitutional chromosome fragility causing an increase in break frequency. For each chromosome the breakpoint is always the same, whether it involves chromosomes from the same person, the same family, or different families. The fragile points are bands 10q24, 12q13, 16q21, 17p12, and Xq27. Autosomal constitutional fragility does not seem to have a phenotypic correspondence. They were found mostly in parents of children with chromosomal abnormalities or in couples with a history of repeated spontaneous abortions which permits one to raise the possibility of an interchromosomal effect. The six constitutional chromosomal fragilities of the X chromosome had in common the association of mental deficiency, delayed speech, and large malformed ears. The break points in constitutional chromosomal fragility were compared to those of spontaneous breaks in vitro, to those induced by X-rays, and to those in Fanconi's anemia. The theoretical consequences of these structural abnormalities are discussed as well as what to do about them when they are found.

Abortion, Habitual↗
PubMed1976

Quantitative and qualitative study of acrocentric associations in 109 normal subjects.

This study involving 109 normal subjects shows that the mean number of associations by cell seems to represent a biological constant which is not sex related and increases with age, especially after 33 years. From a qualitative point of view, the associations are not at random and their distribution varies from one individual to another. The tendency to associate is a characteristic of a given chromosome in a given individual.

Adult↗
PubMed1976

[Humoral immunity and blastic transformation of lymphocytes in trisomy 21].

Studies of immunologic parameters in 52 children with trisomy 21 revealed that -the changes in serum immunoglobulin patterns were minimal, although some delay in the age-dependent rise of IgG concentration was observed; -lymphocyte reactivity to phytohemagglutinin showed a shift with maximal 3H-thymidine incorporation at low PHA concentration; -presence of HBs antigen at an increased incidence, possible existence of anti-thyroid antibodies in serum of trisomy patients and also in that of their parents, abnormalities in phagocytosis, illustrate that trisomy 21 can be associated with multiple immunologic dysfunctions.

Adolescent↗
PubMed1975

[Trisomy 4p. Three new observations (author's transl)].

Three new observations of trisomy 4p are reported. Two are due to a maternal translocation t(4;15). The third is due to a "mirror" duplication, it is the first case of trisomy 4p without balanced parental rearrangement. The very characteristic phenotype is compared to that of 13 other patients already reported in the literature.

Abnormalities, Multiple↗
PubMed1975

[Trisomy 8 in mosaicism].

Case report of a 6 year old girl without clear dysmorphism or mental deficiency. Chromosome studies, performed on blood lymphocytes, showed trisomy 8 in 80 % of the cells. This case is discussed with regards to a short literature analysis.

Child↗
PubMed1975

[Epidemiological aspects of trisomy 21].

The authors analyse cytogenetic and epidemiological data of 4760 cases of trisomy 21 found in 22 European Centres of Genetics. This cytogenetic study is dealing with the frequency of regular free trisomies and those in mosaics and of trisomies by translocation. The frequency of the different types of translocation has been established thanks to an identification of the chromosomes through marking techniques. The risks and causes of recurrence are discussed. From the epidemiological aspect, the role of the mother's age was the subject of a special study which confirms the bimodal distribution of the trisomy 21. This distribution is discussed in association with the other epidemiological factors: X-ray, virus, auto-immunity and gynaecological disorders.

Chromosomes, Human, 21-22 and Y↗