Abstract:
:No phenotypic effect is observed in most inversion heterozygotes. However, reproductive risks may occur in the form of infertility, spontaneous abortions or chromosomally unbalanced children as a consequence of meiotic recombination between inverted and non-inverted chromosomes. An odd number of crossovers within the inverted segment results in gametes bearing recombinant chromosomes with a duplication of the region outside of the inversion segment of one arm and a deletion of the terminal segment of the other arm [dup(p)/del(q) and del(p)/dup(q)]. Using fluorescence in-situ hybridization (FISH), the chromosome segregation of a pericentric inversion of chromosome 1 was studied in spermatozoa of a inv(1)(p22q42) heterozygous carrier. Three-colour FISH was performed on sperm samples using a probe mixture consisting of chromosome 1p telomere-specific probe, chromosome 1q telomere-specific probe and chromosome 18 centromere-specific alpha satellite DNA probe. The frequency of the non-recombinant product was 80.1%. The frequencies of the two types of recombinants carrying a duplication of the short arm and a deletion of the long arm, and vice versa, were respectively 7.6 and 7.2%, and these frequencies were not statistically significant from the expected ratio of 1:1. Sperm-FISH allows the further understanding of segregation patterns and their effect on reproductive failure and allows an accurate genetic counselling.
journal_name
Mol Hum Reprodjournal_title
Molecular human reproductionauthors
Chantot-Bastaraud S,Ravel C,Berthaut I,McElreavey K,Bouchard P,Mandelbaum J,Siffroi JPdoi
10.1093/molehr/gal094subject
Has Abstractpub_date
2007-01-01 00:00:00pages
55-9issue
1eissn
1360-9947issn
1460-2407pii
gal094journal_volume
13pub_type
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journal_title:Molecular human reproduction
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更新日期:1996-07-01 00:00:00
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pub_type: 杂志文章
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更新日期:2008-04-01 00:00:00
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更新日期:2009-02-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
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更新日期:2009-01-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
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更新日期:2009-06-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2016-03-01 00:00:00
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更新日期:2006-07-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
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更新日期:2003-02-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
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更新日期:2017-06-01 00:00:00
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更新日期:2001-11-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
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更新日期:2009-01-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaz010
更新日期:2019-04-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2008-01-01 00:00:00
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pub_type: 杂志文章
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更新日期:1998-08-01 00:00:00
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pub_type: 杂志文章,评审
doi:10.1093/molehr/gag064
更新日期:2003-08-01 00:00:00