CYTOGENETIC AND MOLECULAR STUDIES OF TRISOMY-13
CYTOGENETIC AND MOLECULAR STUDIES OF TRISOMY-13
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DOI：
10.1136/jmg.24.12.725
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发表时间：
1987-12-01
影响因子：
4
通讯作者：
SHELDON, M
中科院分区：
文献类型：
--
作者：
HASSOLD, T;JACOBS, PA;SHELDON, M
Chromosome heteromorphisms, restriction fragment length polymorphisms, or both were used to study the parental origin of 33 cases of simple trisomy 13 and eight cases of translocation trisomy 13. The most common origin for the simple trisomies was non-disjunction at maternal mesiosis I, while for the translocations an equal number of paternally and maternally derived cases was observed. In seven of the simple trisomies, information was obtained from both the cytogenetic and molecular markers, making it possible to study recombination between the two non-disjoined chromosomes. Five of the seven cases involved errors at meiosis I, with crossing over being detected in two of three cses of maternal origin and in one of two cases of paternal origin. This indicates that absence of recombination because of pairing failure is unlikely to be of major importance in the genesis of trisomy 13.
