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Breakpoint Analysis of de Novo Apparently Balanced Chromosomal Translocations

NCT01826708 · Status: UNKNOWN · Phase: EARLY_PHASE1 · Type: INTERVENTIONAL · Enrollment: 10

Last updated 2014-12-31

No results posted yet for this study

Summary

For every child with developmental delay, the investigators do a constitutional karyotype. This karyotype can reveal an apparently balanced chromosomal rearrangement (no visible loss or gain of genetic material), such as a translocation between two or more chromosomes of accidental occurrence (not transmitted by parents). However, an apparently balanced translocation does not explain the phenotype of the child. Among the hypotheses that could explain the child's symptoms, there is the possibility of another chromosomal abnormality at the translocation breakpoints, another defect elsewhere on the chromosomes or gene disruption at or near the breakpoints. Because the resolution of a constitutional karyotype is limited, these microanomalies can go undiagnosed. The goal of this study is to look for a microanomaly on a chromosome using a technology of higher resolution than that of the conventional karyotype. The proposed study uses DNA microarray technology on DNA extracted from blood lymphocytes to perform high-resolution analysis of all chromosomes to search for an unbalanced microrearrangement (such as loss or gain of chromosomal material). If no microrearrangement is found, the investigators will pursue by looking for a gene disruption defect at or near the breakpoints involved in the translocation. This will be done by first isolating the chromosomes involved in the translocation by flow cytometry and then hybridizing each of the isolated chromosomes on a new microarray. The purpose of this study is to find a possible cause to explain the phenotype (microrearrangement or gene disruption).

Conditions

  • Balanced Chromosomal Translocation

Interventions

BIOLOGICAL

Identification of breakpoints

Identification of breakpoints in Molecular Biology : demonstration of a chimeric sequence corresponding to a junction region between the two chromosomes

Sponsors & Collaborators

  • University Hospital, Montpellier

    lead OTHER

Principal Investigators

  • Jacques MD Puechberty, PHD · Laboratory of Chromosomal Genetics - Universitary Hospital

Study Design

Allocation
NA
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2011-10-31
Primary Completion
2013-01-31
Completion
2015-04-30

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 NCT01826708 on ClinicalTrials.gov