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J de Grouchy

Publications and source records attributed to J de Grouchy.

At least 73 records · Page 4Linked to original sources
PubMed1983

Gene mapping of the gibbon. Its position in primate evolution.

Comparative karyotyping of the Hylobatidae has revealed only very few chromosome homoeologies with other primates. Their position in the phylogenetic tree thus remains uncertain. With the hope that comparative gene mapping might allow overcoming these difficulties, somatic cell hybrids were obtained by fusion of fibroblasts from a Hylobates (Nomascus) concolor and cells from a HPRT-Chinese hamster cell line. Of 34 investigated enzyme markers, 20 could be mapped, and 7 syntenies were established. When compared with man, there were 7 synteny disruptions. These results strongly suggest that the Hylobatidae diverged from the common stem leading to the Pongidae after the Cercopithecoidae had diverged.

Animals↗
PubMed1983

Catalase determination in various etiologic forms of Wilms' tumor and gonadoblastoma.

We have previously mapped the gene coding for catalase to 11p13 by gene dosage analysis. Deletion of this chromosomal region causes aniridia, mental retardation, and predisposition to Wilms' tumor (WT). In the present study, 22 patients with various etiologic forms of WT and/or aniridia were investigated. The catalase (CAT) level and karyotype were examined in order to determine the linkage and the gene ordering on chromosome number 11 of the different loci involved. The CAT concentration was normal in the 19 cases without detectable chromosomal abnormalities.

Adolescent↗
PubMed1983

Osteoarticular abnormalities and orthopedic complications in children with chromosomal aberrations.

Chromosome abnormalities may result in a great number of osteo-articular anomalies. Little documentation concerning these anomalies is available. The main orthopedic problems encountered in 67 children with chromosomal abnormalities are reported here. Patients should be evaluated at regular intervals in order to detect osteoarticular involvement. Gradual deterioration results in disabling conditions which are difficult to manage. Orthopedic management should be mainly preventive. It's purpose is to delay or to avoid the onset of disabling complications.

Adolescent↗
PubMed1983

Two cases of del(13q)-retinoblastoma and two cases of partial trisomy due to a familial insertion.

A del(13)(q13q21.1) was found in a patient with bilateral retinoblastoma and mental retardation. The father was carrier of an ins(16;13)(q12.2;q13q21.1) which also was present in several other family members, and responsible for another case of del (13q)-retinoblastoma and two cases of trisomy for the inserted segment. This second del(13q) patient was also carrier of a balanced t(11;22).

Adult↗
PubMed1983

The human gene map: a review.

Genes are mapped to human chromosomes using many different methods: by somatic cell hybridization (by far the most fruitful method until now), by taking advantage of gene dosage effect in cases of chromosomal imbalance, and more recently by molecular hybridization which consists of techniques with great potential values. Some 350 autosomal loci have been assigned. They include genetic markers (blood groups), gene clusters such as the Ig, Hb, HLA genes, enzymatic markers, hereditary diseases (the morbid anatomy of the genome), and the recently discovered "micro-deletions" responsible, for instance, of certain types of childhood malignancies. The X- and Y-linked genes are also discussed.

Chromosome Aberrations↗
PubMed1983

[Stimulation by ionizing radiation of the proliferative potential of fibroblasts from children with del(13q14) retinoblastoma].

Skin fibroblasts from normal children and two children with a 13q14 deletion retinoblastoma (Rb) were submitted to fractionated doses of gamma radiations. Irradiation reduced the population doublings in normal fibroblasts and the decline was inversely related to the dose. An increase in population doublings was obtained with one of the Rb cell lines. Foci appeared in the irradiated culture of the other Rb donor. It is suggested that fibroblasts from patients with Rb are able to express some phenotypical properties of transformed cells, perhaps related to factors rendering them more susceptible to carcinogens.

Cell Division↗
PubMed1983

New gene assignments in the baboon and new chromosome homoeologies with man.

Eight new gene assignments were demonstrated in the baboon (Papio papio, PPA) by cosegregation analysis of twelve hybrid clones obtained by fusion between PPA fibroblasts and a mouse cell line deficient in thymidine kinase. The following markers and syntenic groups were assigned: SOD1 to PPA3, GLO-ME1 to PPA-4, PGM2 to PPA5, CKBB-SORD to PPA7, LDHB to PPA11 and LDHA to PPA14. These localizations are in agreement wit hthe following homoeologies with the human karyotype: PPA3-HSA21, PPA4-HSA6, PPA5-HSA4, PPA7-HSA14 and 15, PPA11-HSA12, PPA14-HSA11.

Animals↗
PubMed1983

[Distal 1q monosomy. 2 new cases and description of the syndrome].

In two unrelated girls, each with severe mental deficiency and craniofacial dysmorphism, deletion of chromosome segment 1q4 had occurred de novo. These two observations together with seven others from the literature allow delineation of a syndrome, as follows. Growth retardation is marked at birth and remains beyond the 3rd percentile. Mental retardation is severe. Seizures are frequent. The cry may be unusually high pitched. Craniofacial dysmorphism includes brachymicrocephaly, a round and flat facies, a high forehead with a prominent metopic suture, thin and scarse hair, palpebral fissures slanted upward, hypertelorism and epicanthal folds, a bulbous nose with a flattened nose-bridge, a large and prominent philtrum, well-defined Cupid's bow, and retrognathia. Other malformations include various skeletal malformations, hypospadias with or without cryptorchidism, a consistent feature, and congenital heart disease in a third of the cases. The deletion occurred de novo in 8 out of the 9 cases. The breakpoint is, according to the several authors, in 1q42 or q43.

Adolescent↗
PubMed1983

[Distal 14q trisomy].

A 22-month-old boy was found to be trisomic for distal 14q due to malsegregation of a t(10;14)(q26.3;q32.1)pat. This observation and seven others reported in the literature permit the delineation of the corresponding clinical syndrome, which includes the following : intra-uterine and postnatal growth retardation; craniofacial dysmorphism : a large facies, chubby cheeks, facial asymmetry, hypertelorism, a broad nose, a short prominent philtrum, a carp-shaped mouth, micrognathia, low-set ears with a prominent antitragus; nipples set high and far apart; short upper limbs; hypogenitalism in the male; internal organ malformations : brain, lung, and heart defects, the last often responsible for an early death. This syndrome resembles that of complete trisomy 14q. The border of the index case was mentally deficient; he carried the paternal translocation as well as an extra unidentifiable fragment translocated onto the short arm of the rearranged chromosome 10.

Child, Preschool↗
PubMed1982

Of rabbit and man: comparative gene mapping.

Nineteen cell hybrids were obtained by fusing rabbit (Oryctolagus, OCU) fibroblasts and a Chinese hamster cell line HGPRT. Eleven enzymatic markers were investigated for cosegregation analysis. Seven could be assigned to OCU chromosomes: LDHA to OCU1; LDHB and TPI to OCU4; PEPB, NP, and ITP to OCU16; and G6PD to OCUX. Two assignments were considered possible: MDH2 to OCU15, and GUK to OCU3 or 15. Two could not be assigned: MDHI and PGD. These results are consistent with the OCU-HSA chromosome homoeologies previously reported, except for PEPB.

Animals↗
PubMed1982

Retinoblastoma, deletion 13q14, and esterase D: application of gene dosage effect to prenatal diagnosis.

Esterase D (ESD) gene dosage studies were performed on amniotic cells from a fetus at risk for del 13q14. The mother was a balanced carrier of an insertion in chromosome #20: 46,XXins(20;13)(p12;q1307q14.3). She had already given birth to a monosomic child with retinoblastoma (Rb) and to a phenotypically normal child trisomic for the same 13q14 segment. Both sibs displayed the expected proportionate gene dosage effects for ESD. A 153% value of ESD activity was found in the amniotic cells indicating unambiguously that the fetus was not monosomic for segment 13q14 and therefore not at increased risk for Rb. The mother delivered a phenotypically normal child who was confirmed to be trisomic for segment 13q14 by cytogenetic analysis and by gene dosage studies for ESD in cord blood cells and in lymphoblastoid cells.

Amnion↗
PubMed1982

Assignment of phosphoglycerate mutase (PGAMA) to human chromosome 10. Regional mapping of GOT1 and PGAMA to subbands 10q26.1 (or q25.3).

Human phosphoglycerate mutase (PGAM, EC 2.7.5.3) is under the control of two structural loci that code for subunits A and B. By means of gene-dosage studies, Bücher et al. (1980) have assigned the loci for GOT1 and PGAMA to chromosome 19 of Mus musculus. Because of the known homologies between human and murine chromosomes, gene dosage studies were carried out in erythrocytes from one patient trisomic for the entire band 10q26 and from another patient monosomic for 10q26.2 and q26.3. Results were compatible with the assignment of PGAMA and GOT1 to 10q26.1 (or 10q25.3).

Aspartate Aminotransferases↗
PubMed1982

Toward clinical microcytogenetics: the aniridia and the retinoblastoma stories.

In conclusion, the aniridia and the retinoblastoma stories tell us the importance of applying high-resolution cytogenetic techniques and of measuring catalase and esterase D activities when screening and investigating patients and their families. They also point to exceptional situations in carcinogenesis, and without doubt the newly devised genetic techniques, such as recombinant DNA, will allow, when applied to these conditions, a far better understanding of carcinogenesis at the molecular level--which is the important one.

Abnormalities, Multiple↗
PubMed1982

Comparative gene mapping of the baboon (Papio papio) and man.

Seven new gene assignments were demonstrated in the baboon (Papio papio) by cosegregation analysis of twelve cell hybrids obtained between PPA fibroblasts and a mouse cell line deficient in thymidine kinase. The following markers and syntenic groups were localized : GUSB on PPA3 ; NP-MPI-PKM2-IDH2 on PPA7; ADA on PPA10 and IDH1 on PPA12. These results are consistent with the following homoeologies of PPA and HSA chromosomes : PPA3-HSA7 ; PPA7-HSA14 and 15 ; PPA10-HSA20 and PPA12-HSA2q

Animals↗
PubMed1982

[Comparative karyotyping of our gibbon species or subspecies (author's transl)].

The karyotypes of several Hylobatidae Hylobates (Hylobates) lar pileatus, H. (Nomascus) concolor leucogenys, H. (N.) concolor ssp, Hybrid H. (N.) concolor leucogenys x H. (N.) concolor gabriellae, H (Symphalangus) syndactylus are compared both each others and also to those of other Primates. Many rearrangements of their chromosomes have occurred during their evolution, and some polymorphism still exists in the living species. This high rate of chromosome rearrangements is in contrast with their phenotypic stability. It is very likely that reciprocal translocations have occurred, these rearrangements being very rare in the evolution of other Primates.

Animals↗