| A 223-kb de novo deletion of PAX9 in a patient with oligodontia. | |
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MedLine Citation:
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PMID: 20485064 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The PAX (paired box) genes are a family of transcription factors critical for fetal growth and organogenesis. Abnormalities of PAX2, PAX3, PAX6, and PAX9 are associated with various congenital craniofacial anomalies, including tooth abnormalities. We present here a boy with oligodontia and language delay. Dental x-rays showed that he lacked primary molars and was missing most of his permanent teeth. A genome-wide, single-nucleotide polymorphism-based microarray revealed a de novo 223-kb heterozygous deletion on 14q13.3 that included the PAX9 gene. In addition, the array showed 2 copies of the X chromosome and 1 copy of the Y chromosome, diagnostic for Klinefelter syndrome. The findings in this patient illustrate the role of the PAX9 gene in tooth development and provide the first example of a de novo deletion of 14q13.3 manifesting primarily with oligodontia. This report also supports the utility of genome-wide microarrays in determining the genetic cause of craniofacial abnormalities. |
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Authors:
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Chad R Haldeman-Englert; Alisha Biser; Elaine H Zackai; Jeffrey E Ming |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: The Journal of craniofacial surgery Volume: 21 ISSN: 1536-3732 ISO Abbreviation: J Craniofac Surg Publication Date: 2010 May |
Date Detail:
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Created Date: 2010-05-20 Completed Date: 2010-09-16 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9010410 Medline TA: J Craniofac Surg Country: United States |
Other Details:
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Languages: eng Pagination: 837-9 Citation Subset: D |
Affiliation:
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Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Anodontia
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genetics* Child, Preschool Humans Klinefelter Syndrome / diagnosis Language Disorders / genetics Male PAX9 Transcription Factor / genetics* Polymorphism, Single Nucleotide Sequence Deletion |
| Chemical | |
Reg. No./Substance:
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0/PAX9 Transcription Factor |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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