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| THE ORIGIN OF 47,XXY AND 47,XXX ANEUPLOIDY - HETEROGENEOUS MECHANISMS AND ROLE OF ABERRANT RECOMBINATION |
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| Author(s): MACDONALD M, HASSOLD T, HARVEY J, WANG LH, MORTON NE, JACOBS P |
| Source: HUMAN MOLECULAR GENETICS Volume: 3 Issue: 8 Pages: 1365-1371 Published: AUG 1994 |
| Times Cited: 118 References: 30 |
| Abstract: We investigated the parent and cell division of origin of the additional sex chromosome in 142 males with a 47,XXY constitution and 50 females with a 47,XXX constitution. In 66 of the 47,XXY males the additional chromosome was paternal in origin and in 76 it was maternal in origin, while among the 47,XXX females only 5 had an additional paternal X chromosome, the remaining 45 having an additional maternal chromosome. Among the 107 maternally derived aneuploids for whom it was possible to determine the cell division of origin, 73 were the result of a mat MI error, 24 the result of a mat MII error and 10 the result of a post zygotic mitotic (PZM) error involving the maternal X chromosome. Among those in which the non-disjunction was attributable to an error at the first meiotic division (MI) we observed three different mechanisms of origin. Approximately 30% were associated with complete absence of recombination (nulllchiasmate); approximately 24% were associated with a normal number of recombinant events but an abnormal distribution of exchanges (perturbed recombination), while approximately 45% were associated with a normal number and distribution of recombinant events (normochiasmate). Nondisjunction due to an error at the second meiotic division (MII) was associated with a slight reduction in the total number of recombinant events and an abnormal distribution of exchanges. Thus of the four different meiotic mechanisms of origin, three were associated with an abnormal number and/or distribution of exchange events. There was no evidence of an increased paternal age in the aneuploids of paternal origin. Among those of maternal origin there was a significantly increased maternal age in the aneuploids resulting from an error of mat MI, but this was restricted to the nullichiasmate and the normochiasmate sub groups. The maternal ages of the MI perturbed recombination sub group, the MII and the PZM group were not increased. |
| Document Type: Article |
| Language: English |
Addresses:
1. SALISBURY DIST HOSP, WESSEX REG GENET LAB, SALISBURY SP2 8BJ, WILTS ENGLAND
2. CASE WESTERN RESERVE UNIV, DEPT GENET, CLEVELAND, OH 44106 USA
3. PRINCESS ANNE HOSP, DEPT COMMUNITY MED, CRC, EPIDEMIOL RES GRP, SOUTHAMPTON S09 4HA, HANTS ENGLAND |
| Publisher: OXFORD UNIV PRESS UNITED KINGDOM, WALTON ST JOURNALS DEPT, OXFORD, ENGLAND OX2 6DP |
| Subject Category: Biochemistry & Molecular Biology; Genetics & Heredity |
| IDS Number: PC827 |
| ISSN: 0964-6906 |
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