| Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls. | |
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MedLine Citation:
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PMID: 21527849 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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We describe two patients with severe developmental delay, hypotonia and breathing abnormalities initially diagnosed with the autosomal recessive Joubert syndrome (JBS) who at a later stage appeared to carry chromosomal abnormalities. One case was due to a 4.8 Mb terminal 1q44 deletion, and the other due to a 15.5 Mb duplication of Xq27.2-qter containing the MECP2 gene. Critical evaluation of the clinical data showed that, retrospectively, the cases did not fulfil the diagnostic criteria for JBS, and that the diagnosis of JBS was incorrectly made. We discuss the diagnostic pitfalls and recommend adhering strictly to the JBS diagnostic criteria in the case of a negative molecular diagnosis. Critical assessment of the MRI findings by a specialized neuroradiologist is imperative. As chromosomal abnormalities may give rise to symptoms resembling JBS, we recommend array-based screening for segmental aneuploidies as an initial genetic test in all cases with a JBS-like phenotype. |
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Authors:
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Hester Y Kroes; Ron Hochstenbach; Rutger A J Nievelstein; Anneke I Den Hollander; Dorien T Lugtenberg; Onno Van Nieuwenhuizen; Dick Lindhout; Martin Poot |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-4-27 |
Journal Detail:
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Title: Clinical dysmorphology Volume: - ISSN: 1473-5717 ISO Abbreviation: - Publication Date: 2011 Apr |
Date Detail:
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Created Date: 2011-4-29 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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aDepartments of Medical Genetics bPediatric Radiology cChild Neurology, University Medical Center, Utrecht dDepartments of Human Genetics eOphthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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