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Biomedical subjects

C Turleau

Publications and source records attributed to C Turleau.

At least 109 records · Page 6Linked to original sources
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↗
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

Trisomy 6qter.

A previously reported patient with trisomy for the distal part of 6q was shown by R-banding to be trisomic for 6q26qter, due to a t(6;22)(q26;p12) mat. Altogether nine patients with 6qter trisomy have been reported. The main features of the 6qter trisomy syndrome are: severe mental and growth retardation; acrocephaly and brachycephaly; a carp-shaped mouth; micrognathia; a very short neck with unusual anterior webbing; joint contractures; the absence of severe inner organ malformations; and survival into adulthood.

Abnormalities, Multiple↗
PubMed1981

Comparative gene mapping of man and Cebus capucinus: a study of 23 enzymatic markers.

A total 23 enzymatic markers were analyzed in cell hybrids obtained between Cebus capucinus (CCA) fibroblasts and a Chinese hamster cell line. The following markers, or syntenic groups, could be localized in CCA chromosomes homologous to human chromosomes or chromosome segments: PGD-ENO1-PGM1, MDH1, IDH1, PGM2, PGM3-ME1, AK3, TPI-LDHB-PEPB, GPI, and SOD1. The following syntenic groups were observed but could not be localized: GUK1-FH and MPI-PKM2. The following loci could not be localized with full confidence: LDHA, NP, PEPD, ITP, and PGK.

Animals↗
PubMed1981

Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13.

A 20-month-old male patient was referred because of severe growth and mental retardation, bilateral glaucoma, hypospadias, and cryptorchidism. Karyotyping revealed a de novo complex three-chromosome rearrangement as well as deletion of band 11p13:46,XY,t(4;7;15)(q212;p14;q26)del(11)(p13p14). Trabeculectomia revealed bilateral aniridia. Surgery on the genitalia revealed male pseudohermaphroditism and bilateral gonadoblastoma. The kidneys were normal. A deficiency in catalase (CAT) activity allowed the regional assignment of the CAT gene to band 11p13.

Chromosome Deletion↗
PubMed1980

A 45,X male with translocation of euchromatic Y chromosome material.

A phenotypically normal 32-year-old male with azoospermia was found to have a 45,X karyotype with presence of excess euchromatic material on 14p. The parent's karyotypes are normal. This observation is interpreted as a Y/14 translocation with loss of the heterochromatic Y chromosome material.

Adult↗
PubMed1980

Trisomy 18q-. Trisomy mapping of chromosome 18 revisited.

Two patients with trisomy for 18p and the proximal segment of 18q (trisomy 18q-) are reported and compared with similar cases from the literature. The phenotype of trisomy 18q- resembles that of full trisomy 18 but differs mainly in the birdlike face, small mouth, more pronounced microretrognathia, minor skeletal dysplasia and inner organ malformations, and less sever vital prognosis.

Abnormalities, Multiple↗
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

[Mosaic trisomy 14 due to an iso dicentric chromosome (author's transl)].

Mosaic trisomy 14 due to a de novo formation of an iso dicentric chromosome 14 was observed in a male negro infant who died at the age of one week. Together with three previous reports in the literature of mosaic trisomy 14, this observation allows the delineation of a syndrome characterized by intrauterine growth retardation ; craniofacial dysmorphism with frontal bossing ; hypertelorism ; microretrognathia, small, lowset, abnormally folded ears ; a translucent film over the eyes ; and congenital heart disease.

Chromosome Aberrations↗
PubMed1979

Monosomy 10qter.

An 11-year-old girl with 10q26qter deletion is described and compared with another patient reported in the literature. The most characteristic features of monosomy 10qter seem to be: severe mental retardation; growth retardation; microcephaly; and facial dysmorphism with a long and triangular facies, a broad and prominent nasal bridge, a poorly developed tip of the nose, a short philtrum, and flattened angles of the mandible. Several of these features are opposed in type and countertype to features of trisomy 10qter.

Child↗