Application of array-CGH and MLPA for detection of 4 cryptic unbalanced translocations / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 288-292, 2013.
Article
in Zh
| WPRIM
| ID: wpr-237265
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To use array comparative genomic hybridization (array-CGH) and multiplex ligation-dependent probe amplification (MLPA) to detect unbalanced rearrangements in 4 cases suspected to have chromosome disease but were undetected with conventional karyotype analysis, and to assess the applicability of array-CGH and MLPA for detection of unbalanced translocation.</p><p><b>METHODS</b>Genomic DNA was extracted with standard procedures. All cases were analyzed by array-CGH and subtelomeric MLPA.</p><p><b>RESULTS</b>All of the cases were identified to have unbalanced translocations by array-CGH analysis, among which 3 were consistent with subtelomeric MLPA analysis. For the remaining one, its chromosomal abnormality was not detected by MLPA as the imbalance has occurred outside of target regions.</p><p><b>CONCLUSION</b>Both array-CGH and MLPA techniques can complement conventional karyotyping for detecting unbalanced translocations. The combination features both high resolution and efficiency for clinical use.</p>
Full text:
1
Index:
WPRIM
Main subject:
Phenotype
/
Translocation, Genetic
/
Chromosome Deletion
/
Comparative Genomic Hybridization
/
Chromosome Duplication
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Multiplex Polymerase Chain Reaction
/
Karyotyping
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Adult
/
Child
/
Humans
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Infant
/
Male
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2013
Type:
Article