Prenatal diagnosis of a tetraploid fetus.

A tetraploid fetus with an unusual facial appearance and multiple congenital anomalies (large cerebral lateral ventricles; lung, cardiac, and genital abnormalities) is reported. Chromosome analysis was performed on amniocytes and fetal blood lymphocytes. A comparison is made with other reported cases (nine liveborn infants and one 17.2-week-old fetus).

Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children).

The difficulties in the diagnosis of Pallister-Killian syndrome are illustrated in this study of nineteen fetuses and children. Diagnosis based on clinical appearance alone is often difficult due to the broad spectrum of clinical anomalies not specific to this syndrome. Due to mosaicism, it is altogether necessary to examine several tissues for the presence of tetrasomy 12p, including circulating lymphocytes in which mosaicism can be as low as 1-3%, amniocytes, chorionic cells and skin fibro-blasts in which mosaicism ranges from 6-100%. When highly suspected on ultrasound examination, the diagnosis recommends prenatal cytogenetic studies because survivors are severely mentally retarded. All the cases are sporadic with only a single preliminary report of recurrence. The cytogenetic diagnosis is therefore helpful in order to reassure family members in regard to genetic counseling.

Natural killer cells are the unique lymphocyte cell subset which do not express HLA-G.

In order to better understand the immunological functions of the HLA-G gene, expression of this gene has been studied with RT-PCR in human functional lymphocyte subpopulations. Only one population of cells has not shown any HLA-G mRNA expression, the BY55-mAb-defined natural killer cells in cord blood. This absence of transcription was not modulated by IL2, IFN-gamma or TNF-alpha. Several T clone lymphocytes isolated from human peripheral blood, bone marrow or thymus have shown a significant transcription of the HLA-G gene. Only one clone, with a natural killer phenotype, did not reveal full length or alternatively spliced transcripts of HLA-G. Intensity of HLA-G transcription was not affected by TNF-alpha, IL13 or IL4, but HLA-G transcripts appeared more abundant in the presence than in the absence of IL2.

Soluble HLA-G molecule. An alternatively spliced HLA-G mRNA form candidate to encode it in peripheral blood mononuclear cells and human trophoblasts.

The HLA-G nonclassic MHC class I gene expressed at the maternal-fetal interface may be involved in cell protection against NK cell lysis. HLA-G mRNA is observed in different adult or fetal human cells and exhibits four alternative forms: HLA-G1, HLA-G2, HLA-G3, and HLA-G4 lacking, respectively, exon 7; exons 7 and 3, exons 7, 3, and 4; exons 7 and 4. Because exon 5 encodes the transmembrane domain of the HLA-G antigen, none of these transcripts could give a soluble form as detected in supernatant of trophoblasts. In this report, we describe an additional alternatively spliced for of HLA-G transcript (HLA-G5) present in adult PBMCs and first-trimester trophoblasts that contains intron 4. Moreover, as with all other transcripts, HLA-G5, is devoid of exon 7. Its relative frequency is, respectively, approximately 1:8 and approximately 1:26 in adult PBMCs and first-trimester trophoblasts. The presence of intron 4 generates a stop codon that excludes transmembrane region (exon 5) of the HLA-G molecule and therefore might produce a soluble antigen. These results are discussed with regard to data on soluble forms of classic HLA antigens and the possible role of HLA-G.

Evidence for the presence of the alternatively spliced HLA-G mRNA forms in human mononuclear cells from peripheral blood and umbilical cord blood.

The HLA-G monomorphic, nonclassic HLA class I gene encodes the molecule that is the only major histocompatibility complex antigen expressed on cytotrophoblasts of placenta. This restricted expression on fetal tissue that is in contact with maternal tissue suggests that HLA-G products may play a role in maternofetal tolerance. We previously have demonstrated in first-trimester human trophoblasts a new alternatively spliced form of HLA-G mRNA lacking exon 4 (HLA-G4) and weak expression of HLA-G1 copy mRNA in adult peripheral blood lymphocytes. By using exon-specific HLA-G primers, we demonstrate in this work the presence of three additional alternatively spliced forms of HLA-G mRNA in human peripheral mononuclear cells (HLA-G2, HLA-G3, and HLA-G4). In umbilical cord blood, HLA-G transcription was observed at very low level and only three alternatively spliced forms were detected (HLA-G1, HLA-G2, and HLA-G3). In contrast, we did not revealed any HLA-G transcript in CD34+ fraction of cord blood cells.

HLA-G mRNA forms in human trophoblasts and peripheral blood lymphocytes: potential use in prenatal diagnosis.

HLA-G limited polymorphic gene maps to the human major histocompatibility complex (MHC) class I subregion and encodes the molecule which is the only MHC class I antigen expressed on cytotrophoblast cells at the maternal-fetal interface. In this tissue, HLA-G primary mRNA is differentially spliced. We have used a sensitive hot start reverse transcriptase-polymerase chain reaction (RT-PCR) technique to investigate the expression of HLA-G gene in first trimester trophoblasts and adult peripheral blood cells. PCR amplification with HLA-G primers specific of exon 3 has enabled us to demonstrate a novel alternatively spliced form of HLA-G mRNA present in fetal first trimester trophoblasts and lacking exon 4 (HLA-G4). Cloning the whole PCR product and hybridizing recombinant bacterial colonies with specific probes has permitted evaluation of HLA-G4 vs. full length mRNA frequency at approximately 1:200. Moreover, the presence of HLA-G transcripts was found at a very weak level in adult peripheral blood lymphocytes and equally in B- and T-cell populations. These results are relevant in the context of immune tolerance and in the potential use of HLA-G transcripts as a marker for RT-PCR detection of the fetal cells in maternal as a marker for RT-PCR detection of the fetal cells in maternal blood.

46,XY/48,XYYY mosaicism case report and review of the literature.

A 46,XY (18.9%)/48,XYYY (81.1%) mosaicism in lymphocytes and a 48,XYYY karyotype in skin fibroblasts were found in a 37-year-old obese man suffering from dysplasia of the right hip. As other reported cases, he showed mental retardation and behaviour disturbances with agressiveness, sexual impulsions. Testicular biopsy revealed fibrohyalinization in about 10% of the tubules and subnormal spermatogenesis in the others.

Case of (Y;1) familial translocation.

A balanced reciprocal translocation t(1;Y) (q11;q11) was found in an infertile man with severe oligoasthenospermia. The same translocation was found in his father. The role of X-chromosome inactivation during meiosis in a male carrying a Y;autosome translocation is discussed.

Monosomy 10qter: a new case.

A new case of terminal deletion 10q26-qter is described. The phenotypic features are compatible with those of the previously reported cases. Deafness is reported for the first time.

Expression of c-fos and c-myc oncogenes in the P388D1 murine macrophage line treated by immunomodulators: absence of direct correlation with DNA synthesis.

Complex patterns of metabolic and functional characteristics are induced in macrophages by biological response modifiers. The study of the early events resulting from the transduction of immunomodulatory signals could be an approach for a better understanding of this activation process. The transcription of c-fos and c-myc genes has been shown to be rapidly modified in many cells responding to various signals. Since murine peritoneal macrophages are a rather heterogeneous population we chose to investigate the c-fos and c-myc modulation in the P388D1 murine macrophage line. Owing to the frequent implication of the c-myc gene in the tumorigenicity of hematopoietic cells we first demonstrated the normal c-myc status in this cell line by Southern analysis. The modulation of the c-fos and c-myc expression has been studied by Northern analysis, 15, 30 and 60 minutes after treatment of the P388D1 cells by the phorbol ester (TPA), the Calcium ionophore A 23187 (Ca2+I), the N-acetyl muramyldipeptide (MDP) or the macrophage Colony Stimulating Factor (CSF-1). The mitogenic activity of these compounds, as evaluated by [3H] thymidine incorporation, has been measured either after a 30 minute or a 24 hour treatment. An early increase in c-fos expression always preceded a c-myc augmentation. The highest modulation of c-fos and c-myc was observed with TPA. Ca2+I and TPA presented a low mitogenic effect if compared to CSF-1. MDP did not change DNA synthesis even after 24 hours. Therefore, in the present study on the P388D1 macrophage cell line, no direct correlation could be evidenced between the mitogenic effect and the modulation of c-fos and c-myc induced by these immunomodifiers. Investigations are in progress in order to evaluate the role of these proto-oncogenes on terminal differentiation induced by immunomodulators in this cell line.

C-fos and c-myc modulation, mitogenic effect and Ia expression in the P388D1 murine macrophage line treated by immunomodifiers.

The aim of the present study was to investigate whether the early modulation of the c-fos and c-myc oncogenes could give some orientation to the impact of immunomodulators on the monocyte-macrophage lineage. In order to work in a homogeneous system we used the P388D1 mouse macrophage cell-line which is considered as an almost mature macrophage. When P388D1 cells were stimulated by LPS, interferon-gamma or the association of both compounds, no direct correlation could be found between the modulation of DNA synthesis and the early expression of the c-fos and c-myc oncogenes. The positive regulation of Ia antigen expression seemed to correlate with the absence of induction of c-fos oncogene.

[Chromosome X with partial long arm deletion. Three cases]. / Chromosome X avec délétion partielle du bras long. A propos de 3 observations.

X deletions result generally in one or many features characteristic of Turner syndrome but each feature cannot be attribute to a well defined deletion. We present 3 cases of Xq partial deletion: 2 in girls with primary amenorrhea and normal stature, 1 in a patient with secondary amenorrhea and short stature. X inactivation is a complex phenomenon, the mechanism is not yet clear. Inactivation center(s) and active genes on inactive chromosome could explain the manifestation or the absence of clinical symptoms in X deletions.

Ring chromosome 17. Case report and review of the literature.

A 46,XX,r(17) karyotype was observed in a 9-year-old infant with short stature, moderate mental retardation but without other physical abnormality. Eight cases with an r(17) have since been reported: 4 can be compared with our patient, one was detected by amniocentesis, and 3 have Miller-Dieker syndrome. Submicroscopic deletions in the subband p13.3 are probably the cause of Miller-Dieker syndrome. They are present in some cases of r(17) but, in others, this short arm region is entirely preserved.

[Ring chromosome 3 in a mentally retarded adult dwarf]. / Chromosome 3 en anneau chez un adulte nain et retardé mental.

A 46-year-old man with mental retardation, growth failure and some dysmorphic features is found to have a 46,XX,r(3)(p26q29) karyotype in 93% of his peripheral lymphocytes. This observation is compared with previously cases of ring 3. The existence of a "ring syndrome" is considered.

[Modifications, due to nutrition, of methyl and methylene 1H NMR signals in human plasma and normal serum samples]. / Etude des modifications apportées par la nutrition sur les signaux de RMN 1H méthyliques et méthyléniques d'échantillons de plasmas et sérums humains normaux.

The line width test has been realised on twelve normal healthy persons (seven men and five women). Blood was collected at different time during one day. The results obtained when blood samples was taking after eating, showed an appreciable decrease in the average methylene and methyl line width. The same test realised on clear serum samples added up with increasing quantities of triglycerids rich lipoproteins leads to the same result.

[In vitro differentiation of inflammatory and non-inflammatory states of the synovial fluid by magnetic protonic relaxation]. / Différenciation in vitro de l'état inflammatoire ou non inflammatoire du liquide synovial par relaxation magnétique protonique.

The differentiation between inflammatory and non inflammatory states has been performed using Nuclear Magnetic Resonance (NMR) in vitro by measuring relaxation times T1 and T2 in 84 synovials fluids obtained from various rheumatologic diseases. The results show that the T1/T2 ratio is more sensitive to distinguish these two situations rather than the isolated T1 or T2 values. In particular, high values of T1/T2 ratio are found in septic arthritis.

[Liquefaction of human sperm by a nuclear magnetic resonance technic. Effect of temperature]. / Etude de la liquéfaction du sperme humain par une technique de résonance magnétique nucléaire. Influence de la température.

An investigation of the liquefaction of human semen was performed using the technique of Nuclear Magnetic Resonance, by measuring the time of spin-spin proton relaxation. Measurements which were made at 24 degrees C and 37 degrees C over a 15-day period showed that significant degradation processes and protein transformations occurred during the first 3-5 days. Different phases of these processes were identified.

[Female karyotype and male phenotype: XX men. Apropos of 2 cases]. / Caryotype féminin et phénotype masculin: "les hommes XX". A propos de deux observations.

Males with a female karyotype are of special interest because they bear potential information on male determining factors leading to a masculine development in spite of a normal female chromosome constitution. We present 2 XX males, the clinical features correspond closely to many of those described in De La Chapelle's series of 46,XX males: reduced body height, infertility with small testicles, marked seminiferous tubular atrophy and azoospermia, slightly decreased testosterone level in serum and increased FSH and LH levels. Four main classes of theories concerning the etiology of XX males are presented, while mosaicism appears very unlikely in most cases, autosomal gene mutation, deletion or inactivation of X-chromosomal genes, X-Y interchange remain possible. The etiology of XX maleness may well be heterogeneous.