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J De Grouchy

Publications and source records attributed to J De Grouchy.

At least 19 recordsLinked to original sources

Mapping around the Xq13.1 breakpoints of two X/A translocations in hypohidrotic ectodermal dysplasia (EDA) female patients.

Cellular hybrids were obtained from a t(X;12) identified in a female patient with hypohidrotic ectodermal dysplasia (EDA). This rearrangement had the same Xq13.1 cytogenetic breakpoint as a t(X;9) found in a previously observed EDA patient. A comparative analysis of these two rearrangements with nine probes was performed at the molecular level. These probes could define three subregions: three are proximal, two are distal, and four are between the two breakpoints. These last probes should prove useful for cloning the gene.

Blotting, Southern

[Chromosome analysis of ovocytes and human embryos collected after fertilization in vitro. A model of natural selection against aneuploidy].

Fertilization in-vitro offers the possibility of studying the karyotype of ovocytes obtained after superovulation, when they are not fertilized. Among 120 ovocytes, 30 p. cent presented a chromosomal anomaly. The same study was carried out on morphologically normal or abnormal embryos - and the percentage of chromosomal anomalies approximates here 27 p. cent. These studies offer a model of natural selection against chromosomal anomalies and confirm the limiting role of these anomalies in the success of FIV.

Aneuploidy

Chromosome phylogenies of man, great apes, and Old World monkeys.

The karyotypes of man and of the closely related Pongidae--chimpanzee, gorilla, and orangutan--differ by a small number of well known rearrangements, mainly pericentric inversions and one fusion which reduced the chromosome number from 48 in the Pongidae to 46 in man. Dutrillaux et al. (1973, 1975, 1979) reconstructed the chromosomal phylogeny of the entire primate order. More and more distantly related species were compared thus moving backward in evolution to the common ancestors of the Pongidae, of the Cercopithecoidae, the Catarrhini, the Platyrrhini, the Prosimians, and finally the common ancestor of all primates. Descending the pyramid it becomes possible to assign the rearrangements that occurred in each phylum, and the one that led to man in particular. The main conclusions are that this phylogeny is compatible with the occurrence during evolution of simple chromosome rearrangements--inversions, fusions, reciprocal translocation, acquisition or loss of heterochromatin--and that it is entirely consistent with the known primate phylogeny based on physical morphology and molecular evolution. If heterochromatin is not taken into account, man has in common with the other primates practically all of his chromosomal material as determined by chromosome banding. However, it is arranged differently, according to species, on account of chromosome rearrangements. This interpretation has been confirmed by comparative gene mapping, which established that the same chromosome segments, identified by banding, carry the same genes (Finaz et al., 1973; Human Gene Mapping 8, 1985). A remarkable observation made by Dutrillaux is that different primate phyla seem to have adopted different chromosome rearrangements in the course of evolution: inversions for the Pongidae, Robertsonian fusions for the lemurs, etc. This observation may raise many questions, among which is that of an organized evolution. Also, the breakpoints of chromosomal rearrangements observed during evolution, in human chromosomal diseases, and after ionizing irradiation do not seem to be distributed at random. Chromosomal rearrangements observed in evolution are known to be harmful in humans, leading to complete or partial sterility through abnormal offspring in the heterozygous state but not in the homozygous state. They then become a robust reproductive barrier capable of creating new species, far more powerful than gene mutations advocated by neo-Darwinism. The homozygous state may be achieved especially through inbreeding, which must have played a major role during primate evolution.(ABSTRACT TRUNCATED AT 400 WORDS)

Animals

Constitutional karyotypes in retinoblastoma.

The improvement of chromosome banding techniques has much increased the frequency of detected forms of retinoblastoma. Ten rearrangements involving 13q14 were observed in a series of 105 retinoblastoma patients including: five de novo deletions, one of them with suspected mosaicism; one de novo apparently balanced translocation; four deletions due to three familial insertions. Such a mechanism could account for pedigrees showing transmission of the tumor through unaffected carriers. Apparently unrelated rearrangements were also observed. Clinical aspects of these constitutional rearrangements are briefly discussed. Comparison with the literature data is presented.

Chromosome Aberrations

[The price of life].

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Biological Evolution

[Pericentric inversion of chromosome 3, homozygote and heterozygote, and centromeric translation of chromosome 12 in a family of orangutangs. Evolutionary implications].

An orangutang family is reported in which the father (Piku) is homozygous for a pericentric inversion of chromosome 3 and heterozygous for a structural rearrangement of chromosome 12 (author's nomenclature for this species). The latter is interpreted as transposition of the centromere by insertion into band q213 [in cen (12)(q213)]. Piku's mate has a normal female chromosome complement. His daughters by this mate (Agnès and Ursula) are heterozygous for both his rearrangements.

Animals

[Pure trisomy 9p 47,XX,+ del(9) (q11). Discovery of one cell 46,XX, del(9) (q11) in the father].

A case is reported of "pure" trisomy 9p: 47,XX,+del(9) (q11). The affected 6-year-old girl has moderate psychomotor retardation (IQ near 70), with speech retardation. She is mildly dysmorphic, with the characteristic features of trisomy 9p: a "worried look", a unilateral grin, slant of the palpebral fissures, a globulous nose, brachymesophalangia and the characteristic dermatoglyphic features. The parents karyotypes are normal, except for one cell from the father which had the karyotype 46,XY,del(9)(q11), the implications of which are discussed.

Child