Pregnancy outcome following prenatal diagnosis of an isodicentric X chromosome: first case report.

An isodicentric X chromosome, idic (X)(q27) was found in a female fetus during cytogenetic studies performed on amniotic cells due to advanced maternal age. No mosaicism was observed. Although segmental inversion duplications have been described for several other chromosomes, isodicentric chromosomes are reported only for gonosomes. Genetic counselling was based on ultrasound findings, cytogenetic replication studies and published cases of X chromosomes duplications ascertained pre- and postnatally. The pregnancy resulted in the birth of a healthy female infant.

Heteromorphism 18ph+ : with or without reproductive consequences?

Heteromorphism or chromosomal variants are usually attributed to structural variations in constitutive heterochromatin. In the case of chromosome 18, 25 cases of 18ph+ have been reported to date. Using the Primed In Situ Labelling technique (PRINS) to study 2 new cases of 18ph+, we have been able to confirm their molecular nature and assuming a mechanism of formation. Although such chromosomal variants are usually thought to have no adverse clinical consequence, a review of the literature shows that many cases were diagnosed because of recurrent abortion, malformed or mentally retarded children suggesting the possible relationship between 18ph+ and such clinical outcomes.

[Turner syndrome and nodular regenerative hyperplasia of the liver]. / Syndrome de Turner et hyperplasie nodulaire régénérative du foie.

Turner's syndrome is an ovarian dysgenesis (karyotype 45 X0) characterized by sexual infantilism and multiple malformations. Liver enzyme anomalies are often observed, but the underlying pathogenic mechanism remains unknown. Nodular regenerative hyperplasia of the liver is associated with another disease in about 80% of cases. However, these two diseases have only been reported together in one woman. We describe here a second case of this association "Turner's syndrome and nodular regenerative hyperplasia". We think that women with Turner's syndrome should benefit from screening for nodular regenerative hyperplasia by searching for elevated liver enzymes. This easily applicable screening protocol would provide early diagnostic of nodular regenerative hyperplasia and allow early and effective treatment of portal hypertension. Moreover, this approach would improve our knowledge of this association.

Fluorescence in situ hybridization on methylcellulose cultured hematopoietic stem cells from myelodysplastic syndromes.

Myelodysplastic syndromes (MDS) are clonal malignancies characterized by peripheral blood pancytopenia and signs of maturation disturbances of one or several cell lineages in bone marrow. MDS present as chimeras associating normal polyclonal and malignant monoclonal progenitors cells in various proportions. Numerous cytogenetic abnormalities have been reported in MDS and can be detected by fluorescence in situ hybridization (FISH) on interphase cells. We have used this technique on methylcellulose cultured hematopoietic progenitors obtained from three patients suffering from MDS and exhibiting informative karyotypic features. Hematopoietic cells were cultured for 14 days, and individual clones (BFU-E, CFU-GM) were picked up and then cytocentrifuged for FISH analysis. We used centromeric probes realized and labeled in our laboratory by PCR to detect aneuploidies for chromosomes 7 and 11 in two patients. Furthermore, we could detect a 5q partial deletion on interphase cells from the third patient using a 5q31 specific probe visualized with the HNPP Fluorescent Detection Set from Boehringer Mannheim. In conclusion, FISH is a helpful method to detect malignant clones in hematopoietic progenitor cultures and hence to study the relative growth of normal vs. leukemic cells in MDS.

Polymerase Chain reaction generated probes for fluorescence in situ hybridization.

The extended use of Fish with centromeric probes in many cytogenetic laboratories is often impaired by the cost of this technique. Polymerase Chain Reaction (PCR) constitutes a simple way to generate and label such centromeric probes at low cost. Two types of human DNA source can be used: 1--Somatic hybrid cell lines containing a unique human chromosome. The specific amplification of the human subset of alphoid DNA is realised with a primer pair specific for the consensus region of human alpha satellite sequence. 2--Total Human DNA. This time, a primer pair specific for the alpha satellite DNA of the chromosome of interest must be designed. These probes, labelled during the PCR reaction by direct incorporation of modified dUTP, are actually widely used in our laboratory, alone or mixed with other probes (chromosome painting or locus specific probes).

Mosaic isochromosome 20q and normal outcome: a new case ascertained by fluorescence in situ hybridization and a review of the literature.

We describe a new case of mosaic isochromosome 20q revealed by amniocentesis. A 46,XX/46,XX,i(20q) chromosomic complement was indirectly confirmed by fluorescent in situ hybridization. Since control chromosome analysis performed on cord blood showed a normal karyotype, pregnancy was continued and resulted in the birth of a normal female infant.

[Trisomy 20 mosaicism in amniotic cell culture. Genetic counselling during the prenatal diagnosis]. / Trisomie 20 en mosaïque dans une culture de cellules amniotiques. Conseil génétique au cours du diagnostic prénatal.

The author presents a new case of trisomy 20 mosaicism in an amniotic fluid culture and emphasizes the special aspects of this chromosomal abnormality. The prenatal diagnosis of "pseudo-mosaicism" is easier when in situ culture techniques are used. Controls of the results on a new sample of amniotic fluid and/or on foetal blood are useful to reinforce the diagnosis and to allow pregnancy to be continued.

[Congenital malaria: clinical, parasitological and histological considerations. Apropos of 200 observations collected at the Lomé University Teaching Hospital and Kpalimé Hospital]. / Le paludisme congénital: considérations cliniques, parasitologiques et histologiques. A propos de 200 observations colligées au CHU de Lomé et à l'Hôpital de Kpalimé.

An evaluation was conducted of the usefulness of clinical, parasitological and histological parameters for the diagnosis of neonatal pathology due to congenital malaria. Haematozoa detected were invariably Plasmodium falciparum. Their presence in the placenta was considered essential to confirm congenital infection, but needed always to be accompanied by a positive diagnose of the same species in the mother, villous vessels, umbilical cord and peripheral blood of the newborn child. None of these was sufficient diagnosis alone. The existence of congenital malaria as a sickness in its own right appears unlikely, however, the indirect effects of maternal malaria on the foetus suggest prophylactic and individualised treatment is desirable for pregnant women.

[Effects of castration on the development of the juxtaglomerular apparatus in the albino rat during growth]. / Effets de la castration sur le développement de l'appareil juxtaglomérulaire du rat albinos pendant la période de croissance.

With the purpose to show a possible sexual difference in the evolution of the juxtaglomerular granular cells during the albino rat post-natal development, the authors have compared groups of male and female animals of crescent ages from 2 to 90 days old. During the first 30 days, the granulation indexes, which express the secretory activity of the Ruyter cells, are regularly increasing as the body and renal weights. On and after the 30th day, the growth becomes more important for males than for females but, in spite of these weight differences, the granulation indexes are not significantly different in terms of sex, at the same age. In order to control these results, castrations have been performed during the period of granular cells increase, on the 17th day of life. The comparison of castrated and uncastrated animals on the 35th day shows that castration causes repercussions on the body and renal growth. On the other hand, no significant modification of the granulation indexes occurs, which brings the demonstration that the Ruyter cells development is independent of the animal sex.

Evolution of the granular cells of the juxtaglomerular apparatus during postnatal development in the albino rat. Effect of age, body weight, renal weight and sex.

The postnatal development of the juxtaglomerular apparatus was studied by fluorescent microscopy in a series of 275 albino Wistar rats aged from 2 to 90 days. After treatment of kidney sections with thioflavine T, the appearance and evolution of secretory function in the terminal segment of the afferent glomerular arteriole were assessed in terms of the granular cell index (GCI) and the juxtaglomerular cell granulation index (JGI). Variations in these indices were analyzed in function of age, body weight, renal weight and sex of the animals. It emerges quite clearly from these studies that granular cell differentiation and maturation takes place in four successive stages: (a) a growth and differentiation phase lasting from the 2nd day to the beginning of the 5th week of extra-uterine life; (b) a critical phase around day 30; (c) a declining phase from day 30 to day 45, and (d) a stabilization phase from day 45 onwards. Until day 30 this evolutionary pattern is paralleled by rising body weight in animals of both sexes; afterwards it becomes independent of the parameters studied, in the males as well as in the females. The pattern of kidney weight parallels that of growth in body size and weight and does not constitute a more specific variable than body weight in the study of the developing granules in the juxtaglomerular apparatus.

[Histochemical studies of mucopolysaccharides in the urethral glands of newborns (glands of Littre) (author's transl)]. / Etude histochimique des mucopolysaccharides des glandes uréthrales du nouveau-né (glandes de Littre)

Histochemical study of urethral glands (Littre's glands) at birth shows, from that time, a notable secretion of mucopolysaccharides. It appears that the properties of the prosecretion are, in part, different from those described in the adult. In fact, in addition to the acid mucins which loose their affinity for Alcian dyes after digestion by neuraminidase and acid hydrolysis, there is an important elaboration of neutral mucosubstances which reacts positively with PAS even if the latter is combined with Alican Blue staining.

[Detection and histochemical identification of lipoid enclaves in rat trophoblast between 15th and 20th day of gestation (author's transl)]. / Detection et identification histochimique des enclaves lipidiques du trophoblaste de rat du 15 au 20 jour de la gestation

Histochemical study of lipids in the allanto placenta of albino rats from the 10th to the 20th day of gestation permits the identification of lipoids enclaves in the trophoblastic cells. Their nature and topography show variations during the placenta evolution. Following a lipoid load, essentially acidic and evenly distributed both in the syncytium and in the giant cells (10th to 15th day), pigmented lipids appear. The latter are exclusively localized in the labyrinth and become preponderant at the 20th day, when the acidic lipid content has decreased extensively. The Autours discuss the nature of these pigmented lipoids and their relationship with the lipid metabolism of the placenta.