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Screening for Chromosomal Microarrangements by CGH-array in Developmental Anomalies of the Skin Suggestive of Mosaicism.

NCT01950975 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 315

Last updated 2024-02-21

No results posted yet for this study

Summary

The principal result expected is the discovery of inframicroscopic chromosomal rearrangements in regions of the genome not yet known to be involved, or mutations in known candidate genes;

The identification of such a mosaic rearrangement in an affected infant would lead to improved genetic counselling. Indeed, as this mosaicism is a consequence of a genetic event occurring at an early stage of embryogenesis, it would be possible to confirm the sporadic nature of the observed disorder and therefore to predict a very low or even negligible risk of recurrence for the couple concerned. For the affected infant, the risk for his/her own offspring will be assessed according to the nature of the genetic anomaly discovered. For medical practice, investigators hope that this study will lead to a clearer definition of the screening modalities for mosaicism in the disorders concerned. In particular, they hope to determine whether or not it is possible to dispense with a skin biopsy, which is more invasive than a blood sample.

Conditions

  • Malformations With Skin Manifestations Suggesting Mosaicism

Interventions

BIOLOGICAL

Peripheral blood samples in EDTA tubes

PROCEDURE

Skin biopsies

Sponsors & Collaborators

  • Centre Hospitalier Universitaire Dijon

    lead OTHER

Study Design

Allocation
NON_RANDOMIZED
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
37 Weeks
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2012-02-20
Primary Completion
2017-09-08

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01950975 on ClinicalTrials.gov