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Biomedical subjects

C Junien

Publications and source records attributed to C Junien.

At least 181 records · Page 10Linked to original sources
PubMed1981

Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination.

A new born male and a three-year-old female with various dysmorphic features were both found to have to have a supernumerary chromosome. Clinical and cytogenetic findings confirmed the existence of a pure de novo 9p tetrasomy in the first case and a pure de novo 9p trisomy in the second case. Gene dosage effects were demonstrated for galactose-1-phosphate uridyltransferase GALT (EC 2.7.7.12) using an improved method for the assay of this enzyme in red blood cells. These findings are in agreement with previous results on similar cases and therefore confirm the assignment of the locus for GALT to 9p.

Child, Preschool↗
PubMed1981

Retinoblastoma-del(13q14): report of two patients, one with a trisomic sib due to maternal insertion. Gene-dosage effect for esterase D.

Two cases of del(13)-retinoblastoma are reported. Case 1, a 13-month-old male, was monosomic due to the malsegregation of the maternal ins(20;13)(p12;q1307q14.3). The patients's sister was trisomic for 13q1307q14.3 with no evident phenotypic effect. Case 2 was a 20-month-old female with a denovo del(13)(q1303q14.3). In both instances esterase D activity showed a remarkable gene-dosage effect in monosomy, disomy, and trisomy, thus confirming the assignment of the gene locus to 13q14, and more precisely to the proximal half of this band. In all instances, the ESTD phenotypes were 1-1. It is suggested that esterase D activity should become an important diagnostic criteria for the various etiological forms of retinoblastoma.

Carboxylesterase↗
PubMed1981

[Prenatal diagnosis of generalized cytochrome b5 reductase deficiency (congenital methemoglobinemia with mental retardation, type II) (author's transl)].

Two first cases of prenatal diagnosis of generalized cytochrome b5 reductase deficiency are presented. In each family, there was an index case with a clinical pattern of congenital methemoglobinemia associated with severe mental retardation (type II). The foetal cells were obtained by amniocentesis at 16 weeks of pregnancy at risk. The cells were cultured, and their cytochrome b5 reductase activity was compared to control amniotic cells, and to cultured fibroblasts originating from the index case. In the first family this led to the conclusion that the foetus was normal or heterozygous. The pregnancy was continued, and the mother delivered a normal newborn with normal red-cell cytochrome b5 reductase. In the second family, the foetal cells displayed a profound decrease of cytochrome b5 reductase activity. The pregnancy was terminated and all the tissues of the aborted foetus exhibited the enzyme deficiency. It is concluded that prenatal diagnosis of the severe form of congenital methemoglobinemia can be performed without ambiguity.

Amniotic Fluid↗
PubMed1980

PK3: a new chromosome enzyme marker for gene dosage studies in chromosome 15 imbalance.

Gene dosage studies yielded results consistent with the assignment of the locus for pyruvate kinase (PK3) to chromosome 15. The activity of seven cytoplasmic enzymes has been determined in fibroblast extracts from six trisomy 15 lines and 16 normal control lines. The fibroblast extracts from the trisomic patients had pyruvate kinase activity 57% higher than fibroblast extracts from control lines, while other enzyme activities were within the normal range of activity.

Alleles↗
PubMed1980

Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia-Wilms' tumor-Gonadoblastoma (WAGR) complex.

A gene dosage effect for catalase (CAT) was investigated in three individuals : one with 11p13 deletion, aniridia, ambiguous genitalla, and gonadoblastoma ; one trisomic for 11p with the exception of 11p13; and one trisomic for 11p13. Results were compatible with the assignment of CAT to 11p13 and its linkage with the aniridia-gonadoblastoma or Wilms' tumor complex (WAGR).

Adolescent↗
PubMed1980

[Increase of LDH A and partial trisomy 11p (author's transl)].

An increase of LDH A activity is observed in an adolescent patient trisomic for 11p with the exception of band 11p13. The clinical syndrome is delineated: broad faces, abundant eyebrows in their internal portion, enophtalmia, hypoplasic nasal bridge, hypertelorism, epicanthus, cleft palate or lip, macroglossia, hypotrophic muscles, soft and abundant skin, mental retardation.

Abnormalities, Multiple↗
PubMed1979

[46,XX/46,XX,del (10) (p13)/47,XX,+r/47,XX,del (10) (p13), + r mosaicism and partial trisomy 10p phenotype (author's transl)].

The mosaicism 46,XX/46,XX,del(10)(p13)/47,XX, +r/47,XX,del(10)(p13), +r was found in the lymphocytes and the fibroblasts of a patient with the following : profound mental retardation; craniofacial dysmorphism with frontal bossing, fine eyebrows, a large hypoplastic nasal bridge, prognathism of the upper jaw, thick lips; a long and thin neck; congenital heart disease; skeletal malformations, with club feet; and hypotonia and lax ligaments. These malformations, compatible with the trisomy 10p syndrome, suggest that the supernumerary ring chromosome was composed of 10p material. An increase of HK1 and GOT1 activities was found. This is in favour of a partial trisomy of chromosome 10. The relative frequencies of the clones constituting the mosaic vary from tissue to tissue and with time.

Abnormalities, Multiple↗
PubMed1978

Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p.

An 8-year-old girl with profound mental retardation and a neurologic syndrome associated with morphologic abnormalities was found to have a supernumerary small submetacentric chromosome. Several members of her family carried a balanced translocation t(12;18)(p12;q11), and the child's karyotype could be explained by 3:1 maternal segregation (tertiary trisomy). The proband was trisomic for 12p13 and 18p. A gene dosage effect was demonstrated for triosephosphate isomerase and glyceraldehyde-3-phosphate in erythrocytes and leukocytes allowing us to assign the corresponding loci to the tip of the chromosome 12 short arm.

Carbohydrate Epimerases↗
PubMed1978

Assignment of NADH-cytochrome b5 reductase (DIA1 locus) to human chromosome 22.

NADH-cytochrome b5 reductase (DIA1, EC. 1.6.2.2) from human fibroblasts and from Chinese hamster cells, both identified by immunologic studies, were clearly distinguished after polyacrylamide gel isoelectro-focusing followed by staining for NADH diaphorase activity. In thirteen independent man-hamster hybrids, the human enzyme DIA1 presented a positive correlation with the human chromosome G22. Eight hybrids were DIA1(+) G22(+) and five hybrids were DIA1(-) G22(-). These data agree with the recent assignment of DIA1 to chromosome G22 by Fisher et al. (1977a). We assume that this newly assigned locus codes for both soluble and microsomal forms of NADH-cytochrome b5 reductase.

Animals↗
PubMed1978

Heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Algeria. Study in Northern Algeria with description of five new variants.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency was found in 3.2% of the male population living in the urban area of Algiers. The deficient subjects originated from multiple geographic regions of Northern Algeria, with prevalence of individuals of Berber-Kabyle origin. Red blood cell G6PD was partially purified and characterized in deficient males from 17 families, and six different variants were found. Among them, only one, the Gd(-) Kabyle variant, had been previously described. It was detected in nine families. The other five variants were new: Gd(-) Laghouat (four cases), Gd(-) Blida (one case), Gd(-) Thenia (one case), Gd(-) Titteri (one case), and Gd(-) Alger (two brothers). Strikingly, the common Mediterranean variant was not found. G6PD deficiency is heterogeneous in northern Algeria where autochtonous variants seem to prevail. The Kabyle variant may be common in this country.

Algeria↗