De novo balanced complex chromosome rearrangement (CCR) involving chromosome 8, 11 and 16 in a boy with mild developmental delay and psychotic disorder.

Congenital Complex Chromosome rearrangements (CCRs) compatible with life are rare in humans. We report a de novo CCR involving chromosomes 8, 11 and 16 with 4 breakpoints in a patient with mild dysmorphic features, acquisition delay and psychotic disorder. Conventional cytogenetic analysis revealed an apparently balanced 8;16 translocation. Further FISH analysis with WCP 8 and WCP 16 probes revealed the presence of a third chromosome involved in the translocation. The multicolour karyotype confirmed the complexity of the rearrangement and showed that the derivative chromosome 8 was composed of 3 distinct segments derived from chromosomes 8, 16 and 11. The breakpoints of this complex rearrangement were located at 8q21, 11q14, 11q23 and 16q12. Comparative genomic hybridization (CGH) and array-CGH were performed to investigate the possibility of any genomic imbalance as a result of the complex rearrangement. No imbalance was detected by these two techniques. Our study showed: i) the necessity to confirm reciprocal translocations with FISH using painting probes, particularly when the karyotype resolution is weak; ii) the usefulness of multicolour karyotype for the characterization of structural chromosomal rearrangements, particularly when they are complex; iii) the usefulness of CGH and array-CGH in cases of abnormal phenotype and apparently balanced rearrangement in order to explore the breakpoints and to detect additional imbalances.

An unusual familial chromosome 9 "variant" with variable phenotype: characterization by CGH analysis.

Heterochromatin confined to pericentromeric and secondary constriction regions plays a major role in morphological variation of chromosome 9, because of its size and affinity for pericentric inversion. We report on a 6-year-old boy with growth and language delay, minor facial anomalies and unusual chromosome 9 variant with an extra-band in the centromeric region on the conventional karyotype. Subsequent analysis by FISH and CGH identified this variant as a dicentric chromosome 9 with a duplication of the 9p12-q21 region. An identical chromosome 9 variant was found in the mild language retarded brother and in the phenotypically normal father and grandfather. The presumed mechanism accounting for the phenotypic discordance observed in this family and the usefulness of CGH in characterization of such variants are discussed. To our knowledge, this is the first investigation of an unusual chromosome 9 variant by CGH.

[Biochemical and ultrastructural study of two familial cases of Winchester syndrome]. / Etude biochimique et ultrastructurale de deux cas familiaux de syndrome de Winchester.

Two new familial cases of Winchester syndrome with the characteristic features allowed to be more explicit on a few data of this syndrome. As reported in a previous paper an abnormal oligosaccharide was detected in urine of patients but the pathological significance of this oligosaccharide must be discussed and its finding in patients with Winchester syndrome does not lead to further elucidation of the aetiology of this condition. Cultured fibroblasts were obtained from a skin biopsy performed in thickened area. These cells had a normal level of the hydrolases studied whereas they showed ultrastructural abnormalities with numerous secondary lysosomes and pseudomyelinic figures.

[Contribution of electron microscopy of cultures of fibroblasts in the diagnosis of hereditary metabolic diseases]. / Apport de la microscopie électronique de cultures de fibroblastes au diagnostic de maladies métaboliques héréditaires.

This work is an electron microscopic study of fibroblast culture of patients with metabolic diseases. In all cases, except for Niemann-Pick disease, primary lysosomes or secondary lysosomes containing lamellar, rectilinear or curvilinear material are accumulated in cytoplasm of fibroblasts. Though clinical consequences of metabolic diseases are diverse, cellular injuries are relatively uniform. Then electron microscopic study would'nt allow the diagnostic of a metabolic disease but it can provide an orientation. In one case, the enzymatic defect is not determined with biochemical analyses though clinical observation is characteristic of a metabolic disease; only the electron microscopic study shows a lysosomal accumulation.

[Prenatal diagnosis of chromosomal anomalies by chorionic villi sampling: culture technic and preliminary results]. / Dépistage prénatal des anomalies chromosomiques par prélèvement des villosités choriales: technique de culture et résultats préliminaires.

Chorionic villi biopsies made during the first trimester of pregnancy allow an early prenatal diagnosis of many fetal abnormalities. The authors described a simple and rapid method of mesenchymal cells culture which have the advantage of improving the quality and number of the mitoses examined.

[Trisomy of the short arm of 9 with isochromosome 9p and partial monosomy Yq]. / Trisomie du bras court du 9 avec isochromosome 9p et monosomie partielle Yq.

A patient with trisomy 9p in association with monosomy of the heterochromatic distal portion of the Y chromosome is reported. The rearrangement is probably due to malsegregation of a translocation 9p, Y and formation of an iso (9p). The phenotype of the patient is characteristic of trisomy 9p. There is a significant increase of GALT activity.

[Preliminary study of stages of human meiosis in spermatocytes and ovocytes (author's transl)]. / Etude preliminaire de stades de la méiose humaine dans les spermatocytes et les ovocytes.

Human meiotic chromosomes, from spermatocytes and ovocytes, are described after observations of whole mount preparations under E.M. Small testicular and ovarian fragments are put in distillated water, then macerated; the cell suspension is spread on the surface of sheet copper grids covered with formvar plus collodion films. After dehydratation interesting stages are selected under L.M. before observations under E.M. Zygotene and pachytene are the most common stages. During pachytene the chromomeres are well individualized; the synaptonemal complex may be observed; chromatin fibers connect the chromosomes to nuclear pores, interchromosomal fibers joint the bivalents. Zygotene and pachytene bivalents are very similar in the male and the feminine germ cells.

[Partial trisomy 18 (pter leads to q122) of maternal origin (author's transl)]. / Trisomie partielle 18 (pter leads to q122) d'origin maternelle.

Partial trisomy of chromosome 18 (pter leads to q122) due to a maternal t(9;18) is described. The proband's phenotype which includes many features of Edward's syndrome, is compared to other cases of partial trisomy 18 already reported.

A new case of partial trisomy 15q-.

Partial trisomy 15 was observed in a newborn with malformations of the head and extremities. A t(5;15) translocation was found in the mother and maternal grandfather.

[Immunocytochemical labeling of human chromosomes by antibodies from human autoimmune serum]. / Marquage immunocytochimique de chromosomes humains après action d'anticorps de sérum autoimmun d'origine humaine.

Mitotic human chromosomes are successively irradiated by ultraviolet, incubated with serum from a patient showing systemic lupus erythematosus (S.L.E.), and antihuman Sheep serum conjugated with peroxidase. After revelation by diaminobenzidine (DAB) banding patterns are pointed out. The chromosome labelling is discussed in comparison with results obtained in other immunocytochemical experiments.

[Ultrastructural observations of the effect of nitrogen mustard on human chromosomes]. / Observations ultrastructurales de l'effet d'une moutarde à l'azote sur les chromosomes humains

The authors observed in electronic microscopy the methyl-bis-beta chlorethylamine action (nitrogen mustard) on normal human chromosomes. The effects were obtained in vitro after colchicine blocking and on grids after fixation. The action is remarkable on the fiber and on the chromatid's structure.