| Subtelomeric MLPA: is it really useful in prenatal diagnosis? | |
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MedLine Citation:
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PMID: 20936637 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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OBJECTIVE: To evaluate the usefulness of subtelomeric multiplex ligation-dependent probe amplification (MLPA) in both the detection of subtelomeric rearrangements in fetuses with ultrasound abnormalities and normal karyotype, and the characterization of cytogenetically detectable rearrangements. METHOD: We studied by subtelomeric MLPA 229 pregnancies with ultrasound findings and normal karyotype (Group 1) and five pregnancies with a cytogenetically visible but not microscopically characterizable rearrangement (Group 2). The detected imbalances were confirmed by fluorescence in situ hybridization (FISH) and parents were also studied. RESULTS: In Group 1, two clinically relevant subtelomeric imbalances (14qter deletion and 20pter deletion) and one subtelomeric imbalance of uncertain significance (X/Ypter duplication) were diagnosed, showing a detection rate of cryptic subtelomeric imbalances in these pregnancies of 1.3%. However, only 14qter deletion seems to be clearly associated with the observed prenatal findings. In Group 2, MLPA contributed to the precise description of the chromosome abnormalities. CONCLUSION: The low detection rate of subtelomeric imbalances and the poor genotype-phenotype correlations in pregnancies with ultrasound abnormalities and normal karyotype suggest that subtelomeric MLPA is not a crucial tool in the prenatal diagnosis of these cases. However, our work provides evidence that MLPA is very useful for the characterization of unbalanced karyotypes. Copyright © 2010 John Wiley & Sons, Ltd. |
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Authors:
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Irene Mademont-Soler; Carme Morales; Jordi Bruguera; Irene Madrigal; Núria Clusellas; Ester Margarit; Aurora Sánchez; Anna Soler |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Prenatal diagnosis Volume: 30 ISSN: 1097-0223 ISO Abbreviation: Prenat. Diagn. Publication Date: 2010 Dec |
Date Detail:
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Created Date: 2010-11-29 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: England |
Other Details:
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Languages: eng Pagination: 1165-9 Citation Subset: IM |
Affiliation:
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Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, Spain. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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