| Cleft palate in a newborn with duplication 2(q13q23). | |
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MedLine Citation:
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PMID: 15352858 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVES: A preterm boy was born with multiple anomalies including cleft palate and ventricular septal defect. Chromosome analysis on a blood sample identified additional material within the long arm of chromosome 2. SETTING: The newborn was in the neonatal intensive care unit requiring tertiary care during his 22 days of life. RESULTS: A supplementary fluorescent in situ hybridization test was performed to confirm the extra chromosomal material was chromosome 2. Parents' chromosomes were normal, indicating a de novo duplication of 2q13q23. CONCLUSION: Comparison of this case with those in the literature suggests involvement of cleft palate of cases with duplication of 2q13. |
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Authors:
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Sharon L Wenger; Ona C Bleigh; Marybeth Hummel |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association Volume: 41 ISSN: 1055-6656 ISO Abbreviation: Cleft Palate Craniofac. J. Publication Date: 2004 Sep |
Date Detail:
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Created Date: 2004-09-08 Completed Date: 2004-11-22 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 9102566 Medline TA: Cleft Palate Craniofac J Country: United States |
Other Details:
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Languages: eng Pagination: 568-70 Citation Subset: D; IM |
Affiliation:
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Department of Pathology, West Virginia University, P.O. Box 9203, Morgantown, WV 26506-9203, USA. swenger@hsc.wvu.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Aneuploidy* Chromosome Inversion Chromosome Painting Chromosomes, Human, Pair 2* Cleft Palate / genetics* Fatal Outcome Gene Duplication Humans Infant, Newborn Karyotyping Male |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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