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Your search keyword '"Serero, Stéphane"' showing total 10 results
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10 results on '"Serero, Stéphane"'

2. Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome.

Author

Kleinfinger, Pascale, Brechard, Marie, Luscan, Armelle, Trost, Detlef, Boughalem, Aicha, Valduga, Mylene, Serero, Stéphane, Costa, Jean-Mar, and Lohmann, Laurence

Subjects
PRENATAL genetic testing, CHORIONIC villus sampling, GENETIC markers, CHROMOSOME abnormalities, CHORIONIC villi, NUCLEOTIDE sequencing, CYTOGENETICS, CIRCULATING tumor DNA
Abstract

A supernumerary marker chromosome (SMC) is a structurally abnormal chromosome that cannot be characterized by conventional banding cytogenetics. Marker chromosomes are present in 0.075% of prenatal cases. They are associated with variable phenotypes, ranging from normal to severely abnormal, and the prognosis is largely dependent on the results of further cytogenomic analysis. Here, we report the identification and characterization of a marker chromosome following prenatal screening in a 39-year-old pregnant patient. The patient had a normal first trimester ultrasound but was high-risk for fetal chromosome anomalies based on the results of maternal serum parameters. Chorionic villus sampling was performed, and analysis of chorionic villi revealed the presence of two identical marker chromosomes. In the interest of a rapid identification of the markers, we performed noninvasive prenatal testing (NIPT) together with chorionic villus sampling. A pericentromeric 29 Mb duplication of chromosome 20: dup (20) (p13q11.21) was identified and thereafter confirmed by targeted metaphasic FISH. Wholegenome sequencing-based NIPT was instrumental in rapid characterization of the SMCs and allowed us to obviate the need for multiple expensive and timeconsuming FISH analyses. [ABSTRACT FROM AUTHOR]

Published
2022
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3. Pre- and Postnatal Phenotype of 6p25 Deletions Involving the FOXC1 Gene

Author

Delahaye, Andrée, Khung-Savatovsky, Suonavy, Aboura, Azzedine, Guimiot, Fabien, Drunat, Séverine, Alessandri, Jean-Luc, Gérard, Marion, Bitoun, Pierre, Boumendil, Julien, Robin, Stéphanie, Huel, Chan, Guilherme, Romain, Serero, Stéphane, Gressens, Pierre, Elion, Jacques, Verloes, Alain, Benzacken, Brigitte, Delezoide, Anne-Lise, and Pipiras, Eva

Published
2012
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10. Assignment of the human fast skeletal muscle myosin alkali light chains gene (MLC1F/MLC3F) to 2q 32.1-2qter

Author

Cohen-Haguenauer, Odile, Barton, Paul J. R., Cong, Nguyen Van, Serero, Stéphane, Gross, Marie-Sylvie, Jegou-Foubert, Chantal, Tand, Marie-France, Robert, Benoit, Buckingham, Margaret, and Frézal, Jean

Abstract

A DNA probe derived from a mouse intronless pseudogene including coding regions for the myosin fast skeletal muscle alkali light chains, MLC1F/MLC3F (suggested HGM symbol, MYL1), was tested on a panel of 25 independent man-rodent somatic cell hybrids in order to assign the human MLC1F/MLC3F gene to a human chromosome. A 3.7-kb TaqI human fragment was found to correlate with the presence of chromosome 2 in the hybrids, characterized both by cytogenetic analysis and reference enzyme markers. A regional assignment to 2q32.1-qter was possible using hybrids whose human parental strains bore a reciprocal translocation t(X;2) (p22;q32.1). The fact that IDH1 and the MLC1F/MLC3F gene are closely linked on chromosome 1 in the mouse and map to the same region of human chromosome 2 in man indicates, that these chromosomes have a conserved region of homology between them and that the human 3.7-kb TaqI fragment corresponds indeed to a functional gene.

Published
1988
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