Sperm-FISH analysis in a pericentric chromosome 1 inversion, 46,XY,inv(1)(p22q42), associated with infertility.
Mol Hum Reprod
; 13(1): 55-9, 2007 Jan.
Article
in En
| MEDLINE
| ID: mdl-17077110
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 11. Sperm-FISH allows the further understanding of segregation patterns and their effect on reproductive failure and allows an accurate genetic counselling.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Spermatozoa
/
Chromosomes, Human, Pair 1
/
In Situ Hybridization, Fluorescence
/
Infertility, Male
/
Chromosome Inversion
Type of study:
Prognostic_studies
/
Risk_factors_studies
Limits:
Adult
/
Humans
/
Male
Language:
En
Journal:
Mol Hum Reprod
Journal subject:
BIOLOGIA MOLECULAR
/
MEDICINA REPRODUTIVA
Year:
2007
Document type:
Article
Affiliation country:
France