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A 45,X male with molecular evidence of a translocation of Y euchromatin onto chromosome 1 |
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| Authors: | Nacer Abbas Giuseppe Novelli Narcisio Carlo Stella Onofrio Triolo Francesco Corrado Marc Fellous Michèle Chery Simone Gilgenkrantz Bruno Dallapiccola |
| Affiliation: | (1) INSERM U.276, Institut Pasteur, 25, Rue du Docteur Roux, 15 Paris Cedex, France;(2) Cattedra di Genetica, Universita degli Studi, Via Saffi. 2, I-61029 Urbino, Italy;(3) Clinica Ostetrica e Ginecologia, Universita di Messina, I-90143 Messina, Italy;(4) Laboratoire de Génétique, Centre Régional de Transfusion Sanguine, Avenue de Bourgogne, F-54511 Vandoeuvre les Nancy Cedex, France |
| Abstract: | 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. |
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