Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism

Autor: Tosca, Lucie, Brisset, Sophie, Petit, François, Lecerf, Laure, Rousseau, Ghislaine, Bas, Cécile, Laroudie, Mireille, Maurin, Marie-Laure, Tapia, Sylvie, Picone, Olivier, Prevot, Sophie, Goossens, Michel, Labrune, Philippe, Tachdjian, Gérard

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2010, 18 (8), pp.882-8. ⟨10.1038/ejhg.2010.46⟩

International audience; A mosaicism is defined by the presence of two or more populations of cells with different genotypes in one individual. Chromosomal germinal mosaicism occurs in germ cells before the onset of meiosis. Previously, few studies ha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______212::5b3b9e1fa31f54443cdaaf729e98806a
https://www.hal.inserm.fr/inserm-00515192/file/Tosca_al.pdf

Defining the efficiency of fluorescence in situ hybridization on uncultured amniocytes on a retrospective cohort of 27407 prenatal diagnoses.

Autor: Lewin, Patricia, Kleinfinger, Pascale, Bazin, Anne, Mossafa, Hossein, Szpiro-Tapia, Sylvie

Publikováno v: Prenatal Diagnosis; Jan2000, Vol. 20 Issue 1, p1-6, 6p

Defining the efficiency of fluorescence in situ hybridization on uncultured amniocytes on a retrospective cohort of 27407 prenatal diagnoses

Autor: Lewin, Patricia, Kleinfinger, Pascale, Bazin, Anne, Mossafa, Hossein, Szpiro-Tapia, Sylvie

Publikováno v: Prenatal Diagnosis; January 2000, Vol. 20 Issue: 1 p1-6, 6p

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Homologie des chromosomes sexuels X et Y. mâles 46, XX.

Autor: Tapia, Sylvie Annie Szpiro

Th.--Méd.--Paris 5--Cochin-Port Royal, 1984. N°: 163.

Externí odkaz: http://catalogue.bnf.fr/ark:/12148/cb361094955