| A novel microdeletion/microduplication syndrome of 19p13.13. | |
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MedLine Citation:
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PMID: 20613546 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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PURPOSE: Whole genome interrogation by array-based comparative genomic hybridization has led to a rapidly increasing number of discoveries of novel microdeletion and/or microduplication syndromes. We here describe the clinical and cytogenomic correlates of a novel microdeletion/microduplication of 19p13.13. METHODS: Among patients referred to the Cytogenetics laboratory for array-based comparative genomic hybridization analysis, we identified four with a deletion and one with a duplication within 19p13.13. Confirmatory fluorescence in situ hybridization and parental studies were performed. Detailed clinical findings and array profiles were reviewed and compared. RESULTS: Patients with deletions of 19p13.13 share a unique constellation of phenotypic abnormalities. In addition to developmental disabilities, the microdeletion manifested in overgrowth, macrocephaly, and ophthalmologic and gastrointestinal findings; in contrast, the single microduplication manifested in growth delay and microcephaly. CONCLUSION: The consistent constellation of clinical findings associated with copy number variation of this region warrants the designation of microdeletion/microduplication syndrome of 19p13.13. An approximately 311-340 Kb smallest region of overlap encompassing 16 genes was identified. Candidate genes include MAST1, NFIX, and CALR. Identification of this syndrome has led to recommendations for diagnostic work-up and follow-up of patients with this copy number variant. Integration of detailed clinical and array data is critical for advancing both patient care and human genomic research. |
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Authors:
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Michelle Dolan; Nancy J Mendelsohn; Mary Ella Pierpont; Lisa A Schimmenti; Susan A Berry; Betsy Hirsch |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Genetics in medicine : official journal of the American College of Medical Genetics Volume: 12 ISSN: 1530-0366 ISO Abbreviation: Genet. Med. Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-08-12 Completed Date: 2010-11-30 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9815831 Medline TA: Genet Med Country: United States |
Other Details:
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Languages: eng Pagination: 503-11 Citation Subset: IM |
Affiliation:
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Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota 55455, USA. dolan009@umn.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Chromosomes, Human, Pair 19 / genetics* Comparative Genomic Hybridization Gene Deletion* Gene Duplication* Growth Disorders / genetics* Humans In Situ Hybridization, Fluorescence Minnesota Pedigree Phenotype* Syndrome |
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