caa a22 4500 467986266 CHVBK 20180323112532.0 cr unu---uuuuu 170328e19901101xx s 000 0 eng 10.1007/BF00205184 doi (NATIONALLICENCE)springer-10.1007/BF00205184 A 45,X male with molecular evidence of a translocation of Y euchromatin onto chromosome 1 [Elektronische Daten] [Nacer Abbas, Giuseppe Novelli, Narcisio Stella, Onofrio Triolo, Francesco Corrado, Marc Fellous, Michèle Chery, Simone Gilgenkrantz, Bruno Dallapiccola] Summary: A 45,X complement was found in lymphocyte and fibroblast cultures of a male infant with severe growth and mental retardation and mild dysmorphism. Lymphocyte DNA from this patient was found to contain Yp chromosome sequences. In situ hybridization (ISH) with the 50f2 probe led to a clear assignment of euchromatic material on the short arm of chromosome 1. This observation and others from the literature argue in favour of the conclusion that all 45.X males are probably either the result of undetected mosaicism or are carriers of Y translocated material. Springer-Verlag, 1990 Abbas Nacer INSERM U.276, Institut Pasteur, 25, Rue du Docteur Roux, 15, Paris Cedex, France aut Novelli Giuseppe Cattedra di Genetica, Universita degli Studi, Via Saffi. 2, I-61029, Urbino, Italy aut Stella Narcisio Clinica Ostetrica e Ginecologia, Universita di Messina, I-90143, Messina, Italy aut Triolo Onofrio Clinica Ostetrica e Ginecologia, Universita di Messina, I-90143, Messina, Italy aut Corrado Francesco Clinica Ostetrica e Ginecologia, Universita di Messina, I-90143, Messina, Italy aut Fellous Marc INSERM U.276, Institut Pasteur, 25, Rue du Docteur Roux, 15, Paris Cedex, France aut Chery Michèle Laboratoire de Génétique, Centre Régional de Transfusion Sanguine, Avenue de Bourgogne, F-54511, Vandoeuvre les Nancy Cedex, France aut Gilgenkrantz Simone Laboratoire de Génétique, Centre Régional de Transfusion Sanguine, Avenue de Bourgogne, F-54511, Vandoeuvre les Nancy Cedex, France aut Dallapiccola Bruno Cattedra di Genetica, Universita degli Studi, Via Saffi. 2, I-61029, Urbino, Italy aut Human Genetics Springer-Verlag 86/1(1990-11-01), 94-98 0340-6717 86:1<94 1990 86 439 https://doi.org/10.1007/BF00205184 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00205184 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Abbas Nacer INSERM U.276, Institut Pasteur, 25, Rue du Docteur Roux, 15, Paris Cedex, France aut NATIONALLICENCE 700 1- Novelli Giuseppe Cattedra di Genetica, Universita degli Studi, Via Saffi. 2, I-61029, Urbino, Italy aut NATIONALLICENCE 700 1- Stella Narcisio Clinica Ostetrica e Ginecologia, Universita di Messina, I-90143, Messina, Italy aut NATIONALLICENCE 700 1- Triolo Onofrio Clinica Ostetrica e Ginecologia, Universita di Messina, I-90143, Messina, Italy aut NATIONALLICENCE 700 1- Corrado Francesco Clinica Ostetrica e Ginecologia, Universita di Messina, I-90143, Messina, Italy aut NATIONALLICENCE 700 1- Fellous Marc INSERM U.276, Institut Pasteur, 25, Rue du Docteur Roux, 15, Paris Cedex, France aut NATIONALLICENCE 700 1- Chery Michèle Laboratoire de Génétique, Centre Régional de Transfusion Sanguine, Avenue de Bourgogne, F-54511, Vandoeuvre les Nancy Cedex, France aut NATIONALLICENCE 700 1- Gilgenkrantz Simone Laboratoire de Génétique, Centre Régional de Transfusion Sanguine, Avenue de Bourgogne, F-54511, Vandoeuvre les Nancy Cedex, France aut NATIONALLICENCE 700 1- Dallapiccola Bruno Cattedra di Genetica, Universita degli Studi, Via Saffi. 2, I-61029, Urbino, Italy aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 86/1(1990-11-01), 94-98 0340-6717 86:1<94 1990 86 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer