Prenatal identification of a Y-chromosome deletion by Y-specific single copy DNA probes |
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| Authors: | S Gilgenkrantz P Droulle E Seboun M Casanova M Schweitzer M Goosens M Fellous |
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| Institution: | 1. Maternité Régionale, University of Medicine, 54000 Nancy, France;2. Institut Pasteur, Department of Human Immunogenetics, 75724 Paris Cedex 15, France;3. Hǒpital Henri Mondor, Service de Biochimie, 94010 Creteil, France |
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| Abstract: | A sex chromosome deletion was identified in the course of prenatal diagnosis for maternal age. Ultrasound pictures revealed male fetal sex and a comparison with the father's Y chromosome suggested that the altered chromosome might be a de novo deletion of the Y chromosome. DNA hybridization with five human Y-specific probes shows that, among the Y-specific sequences recognized by the probes, only two of them are absent. The normal infant, at birth, was mosaic 46, XYq- /46,XY. |
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| Keywords: | Y-specific single-copy DNA probes Y chromosome deletion Prenatal diagnosis |
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