What causes the abnormal phenotype in a 49,XXXXY male? |
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| Authors: | Gloria E Sarto Priscila G Otto Evelyn M Kuhn Eeva Therman |
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| Institution: | (1) Department of Obstetrics and Gynecology, University of New Mexico, School of Medicine, 87131 Albuquerque, NM, USA;(2) Laboratorio de Genetica Humana, Departmento de Biologia, Institute de Biociencias, Universidade de Sao Paulo, S.P., Brazil;(3) Department of Obstetrics and Gynecology, Mount Sinai Medical Center, University of Wisconsin-Milwaukee, 53201 Milwaukee, WI, USA;(4) Department of Medical Genetics, University of Wisconsin, 53201 Madison, WI, USA |
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| Abstract: | Summary The chromosome replication pattern of a man with 49,XXXXY was analyzed using 3H-thymidine and autoradiography as well as BrdU and acridine orange. The former technique showed a highly irregular replication pattern; the latter revealed one early replicating X chromosome, and the other three more or less asynchronously replicating. Two hypotheses seem to explain best the abnormal phenotype of males with an XXXXY sex chromosome constitution: (1) The number of the always active regions (tip of Xp) and of the possibly always active regions (the Q-dark regions on both sides of the centromere) is increased from one to four. (2) The replication pattern of the late-replicating X chromosomes is highly asynchronous, which might affect the phenotype. The possibility that more than one X chromosome might remain active in some cells, an even more abnormal and obviously deleterious situation, is still open. |
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