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Interchromosomal insertions (IT) are rare and complex structural rearrangements. Theoretically, the risk to have a child to term with a malformation or mental retardation can reach 50% related to the proportion of unbalanced gametes produced from behavior of chromosomes during meiosis. However, the meiotic segregation of IT has rarely been studied. This study provide an accurate reproductive risk of IT carriers resulting from a combined analysis of Sperm-FISH and preimplantation genetic testing for structural rearrangement (PGT-SR) management of IT carriers.
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| Measure | Description | Time Frame |
|---|---|---|
| estimate the IT carrier's reproductive risk | estimate the IT carrier's reproductive risk by investigation of the meiotic segregation of sperm from IT carriers by FISH and evaluate PGT-SR results of male and female IT carriers | day 1 |
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Inclusion criteria:
- Adult patient whom carrying Insertional translocation in the context of PGT-SR management
Exclusion Criteria:
- Patient who reject the study protocol
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Interchromosomal insertions (IT) are rare and complex structural rearrangements. Theoretically, the risk to have a child to term with a malformation or mental retardation can reach 50% related to the proportion of unbalanced gametes produced from behavior of chromosomes during meiosis.
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| Name | Affiliation | Role |
|---|---|---|
| Izabel Bernicot, Ph.D | University Hospital, Montpellier | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Uhmontpellier | Montpellier | 34295 | France |
NC
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| ID | Term |
|---|---|
| D007246 | Infertility |
| ID | Term |
|---|---|
| D000091662 | Genital Diseases |
| D000091642 | Urogenital Diseases |
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