| Cryptic del/dup aberration of 60.6 Mb at 5q15-5q21.3 predicting adult-onset leucodystrophy. | |
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MedLine Citation:
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PMID: 22776853 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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We report on a de novo interstitial del/dup aberration consisting of a 13.3 Mb deletion of 5q15-5q21.3 (92.1-105.4 Mb, hg19) and a 23.6 Mb tandem direct duplication of 5q21.3-5q23.3 (106.1-129.7 Mb, hg19). Although the aberration covered a total of 60.6 Mb, it was cryptic, i.e., not detectable by karyotyping at a resolution of 430 bands. Array-CGH indicated a diploid region of 0.6 Mb between the duplicated and the deleted segment. The aberration affected a 14-month-old boy conceived after intracytoplasmic sperm injection who presented with developmental delay, muscular hypotonia, partial agenesis of the corpus callosum, prominent forehead, low set ears, hypertelorism, wide-bridged nose, retrognathia, high palate, and cryptorchidism. The duplicated segment comprised the LMNB1 gene, thus predicting adult-onset autosomal-dominant leukodystrophy and revealing a temporal dimension of the phenotype. Counseling problems implicated by this prediction include "the right not to know" that the patient might want to exercise when coming of age. |
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Authors:
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Christian Jaklin; Katrin Heiliger; Maja Hempel; Doris Sollacher; Monika Cohen; Christine C Makowski; Thomas Meitinger; Anna Jauch; Konrad Oexle |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-7-6 |
Journal Detail:
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Title: European journal of medical genetics Volume: - ISSN: 1878-0849 ISO Abbreviation: - Publication Date: 2012 Jul |
Date Detail:
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Created Date: 2012-7-10 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2012. Published by Elsevier Masson SAS. |
Affiliation:
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Institut für Humangenetik, Klinikum rechts der Isar, TU München, Germany. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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