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What causes the abnormal phenotype in a 49,XXXXY male?
- Source :
-
Human genetics [Hum Genet] 1987 May; Vol. 76 (1), pp. 1-4. - Publication Year :
- 1987
-
Abstract
- 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: 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. 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.
Details
- Language :
- English
- ISSN :
- 0340-6717
- Volume :
- 76
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Human genetics
- Publication Type :
- Academic Journal
- Accession number :
- 3570296
- Full Text :
- https://doi.org/10.1007/BF00283041