Interphase fluorescence in situ hybridization (FISH): a new method for primary sex ratio determination in the Formicidae

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Need for search for cryptic translocation in parents with several children affected with MCA: report of a cryptic translocation (10;14) detected by FISH.

The 3 affected children from 2 different wedlocks of the mother have been previously described (11). Search by FISH analysis in the mother revealed she is a carrier of balanced translocation of clear terminal G bands of equal sizes of the long arms of chromosomes 10 and 14. Chromosomal slides of the last child (Patient 3) could be analysed by fish and revealed that he did inherit the derivative chromosome 10. He had a partial trisomy 14 and a partial deletion of the long arm of chromosome 10. The clinical pictures correspondence to the possibly abnormal karyotypes will be discussed.Journal ArticleSCOPUS: ar.jinfo:eu-repo/semantics/publishe

Experience with 1251 transcervical chorionic villus samplings performed in the first trimester by a single team of operators.

OBJECTIVE: We report our experience with 1251 chorionic villus samplings (CVS) performed by a single team of operators. STUDY DESIGN: From April 1984 through August 1993, 1251 CVS were performed in 1236 pregnancies. The transcervical route was used in the vast majority and the sampling was performed during the 9th through 13th weeks of gestation in 1193 cases (96%). Follow-up was ensured to tabulate the pregnancy-related complications and fetal loss rate until 28 weeks' gestation. Pregnancy outcome was documented for all but 36 women (3%). RESULTS: Most of the tests (72%-891/1236 pregnancies) were performed for advanced maternal age (> or = 35 years). The percentage of each indication remained relatively stable, around 90% for chromosomal indications and between 8 and 11% for DNA studies. Samples adequate for diagnosis were obtained in one or two sessions in 1179 pregnancies (95%). The rate of spontaneous abortion possibly related to CVS was 2.5% (28/1092). Mosaicism confined to the placenta was found in 23 cases (1.8%). The pregnancy outcome was known in 1098 pregnancies. There were 10 perinatal losses (0.9%) and nine congenital malformations (0.8%). No transverse limb defects were observed. The rate of premature deliveries (4.6%) and of small for gestational age were comparable to the general uninstrumented population. CONCLUSION: CVS is a safe and effective mode of antenatal diagnosis when performed by a single team of experienced operators.Journal ArticleResearch Support, Non-U.S. Gov'tSCOPUS: ar.jinfo:eu-repo/semantics/publishe

Giant platelets in a case of deletion 11q24-qter confirmed by fluorescence in situ hybridization

Here we report the association of giant platelets and an increase in platelet volume in a 19-month-old black female with de novo del 11q24-qter. The deletion, which was visible on karyotype, was further confirmed and more precisely localized by fluorescence in situ hybridization studies (FISH) that showed the deletion to lie distal to the MLL gene region (11q23). Clinically, the case presented less severe symptoms than Jacobsen syndrome-the well known partial deletion of the distal end of chromosome 11. Platelet glycoproteins CD 41, CD 42a, C 42b, CD 61, and PAC-1 were also assayed and found to be normally expressed. To our knowledge, giant platelets are described for the first time in the relevant deleted region. © 2002 Wiley-Liss, Inc.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Diaphragmatic hernia and Fryns syndrome phenotype in partial trisomy 22

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Correlation between fluorescence in-situ hybridization analyses and in-vitro development to blastocyst stage of embryos from Robertsonian translocation (13;14) carriers.

BACKGROUND: Little is known about the extent and timing of selection against the embryos that are carriers of unbalanced translocations. METHODS: Fluorescence in-situ hybridization (FISH) with probes for chromosomes 13, 14 and 18 was performed, mostly on day 3, on 69 human embryos which were then allowed to develop further in culture to day 5, from five carriers of Robertsonian translocation (RT) t(13;14). RESULTS: Twelve normal/balanced blastocysts were replaced in seven consecutive cycles (day 5). Three cycles resulted in clinical pregnancies. The proportion of blastocysts displaying a normal/balanced karyotype was 56%, while only the 20% of blocked embryos were normal/balanced (chi(2): P < 0.05). All the embryos analysed on day 5, except one, displayed mosaicism. The percentages of diploid cells for chromosomes 13 and 14 were significantly lower than for chromosome 18 (chromosome 13: 49.0 +/- 28.0; chromosome 14: 53.0 +/- 31.8; chromosome 18: 75.7 +/- 20.4; Mann-Whitney test: P < 0.01). The embryos displaying vertical line 62% of diploid cells for at least two of the three chromosomes analysed, more frequently reached the blastocyst stage (blocked embryos: blastocysts chromosome 13: 43.1 +/- 30.3, 64.9 +/- 29.0; chromosome 18: 64.9 +/- 29.0, 83.0 +/- 12.9; Mann-Whitney test: P < 0.01). CONCLUSIONS: Normal/balanced embryos developed better but the proportion of abnormal blastocysts was still high. Preimplantation genetic diagnosis is recommended to select normal/balanced embryos from RT t(13;14) carriers.In VitroJournal ArticleResearch Support, Non-U.S. Gov'tinfo:eu-repo/semantics/publishe

Cordocentesis for rapid karyotype: 421 consecutive cases.

Between October 1985 and December 1993, 421 patients underwent fetal blood sampling for rapid karyotyping (426 samplings, 5 twin pregnancies). The aim of the study was to evaluate cordocentesis in terms of results, complications and additional information in this specific indication especially in case of abnormal pregnancy sonogram. The fetal loss rate possibly related to fetal blood sampling was 1.9%. Abnormal sonograms represented 91% of rapid karyotype indications. Chromosomal abnormalities were found in 9.5% of abnormal sonograms and in 16.9% of fetal structural anomalies (37 cases). The commonest chromosomal abnormality was trisomy 21 (11 cases). In conclusion, cordocentesis is a safe and reliable method for rapid karyotyping although it is associated with more risks than in other indications (congenital infections). The high rate of chromosomal abnormalities pleaded for ultrasonographic screening in a population usually not investigated by cytogenetic studies.Journal Articleinfo:eu-repo/semantics/publishe

Aspects de recherche scientifique et progres techniques en fertilite humaine

SCOPUS: ar.jinfo:eu-repo/semantics/publishe

A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome.

Deletions of the short arm of chromosome 6 are relatively rare, only 16 cases having been described in the literature so far. Here we present a detailed investigation by fluorescence in situ hybridisation of two further cases with different but overlapping interstitial deletions involving 6p22, 6p23 and 6p24. The main features involved are craniofacial malformations, heart and kidney defects, mental retardation/developmental delay, hypotonia and hydrocephalus. By using 36 yeast artificial chromosome and cosmid clones from a contig covering 6p22.3-6p25 and other probes with defined cytogenetic locations within 6p21-6p22 we have precisely localised the breakpoints involved in each of the cases, estimated the sizes of the deleted regions and defined the region that is hemizygously deleted in both cases.Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tinfo:eu-repo/semantics/publishe

Loss of vascular expression of nucleoside triphosphate diphosphohydrolase-1/CD39 in hypertension

International audienceEctonucleoside triphosphate diphosphohydrolase-1, the major vascular/immune ectonucleotidase, exerts anti-thrombotic and immunomodulatory actions by hydrolyzing extracellular nucleotides (danger signals). Hypertension is characterized by vascular wall remodeling, endothelial dysfunction, and immune infiltration. Here our aim was to investigate the impact of arterial hypertension on CD39 expression and activity in mice. Arterial expression of CD39 was determined by reverse transcription quantitative real-time PCR in experimental models of hypertension, including angiotensin II (AngII)-treated mice (1 mg/kg/day, 21 days), deoxycorticosterone acetate-salt mice (1% salt and uninephrectomy, 21 days), and spontaneously hypertensive rats. A decrease in CD39 expression occurred in the resistance and conductance arteries of hypertensive animals with no effect on lymphoid organs. In AngII-treated mice, a decrease in CD39 protein levels (Western blot) was corroborated by reduced arterial nucleotidase activity, as evaluated by fluorescent (etheno)-ADP hydrolysis. Moreover, serum-soluble ADPase activity, supported by CD39, was significantly decreased in AngII-treated mice. Experiments were conducted in vitro on vascular cells to determine the elements underlying this downregulation. We found that CD39 transcription was reduced by proinflammatory cytokines interleukin (IL)-1β and tumor necrosis factor alpha on vascular smooth muscle cells and by IL-6 and anti-inflammatory and profibrotic cytokine transforming growth factor beta 1 on endothelial cells. In addition, CD39 expression was downregulated by mechanical stretch on vascular cells. Arterial expression and activity of CD39 were decreased in hypertension as a result of both a proinflammatory environment and mechanical strain exerted on vascular cells. Reduced ectonucleotidase activity may alter the vascular condition, thus enhancing arterial damage, remodeling, or thrombotic events