| Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia. | |
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MedLine Citation:
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PMID: 11424144 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on maternal first cousins with bilateral microtia, micrognathia, cleft palate and hematologic findings of Diamond-Blackfan anemia (DBA). The similarity of findings shared between our cases and a female reported by Hasan and Inoue [1993] suggests that this is a distinctive syndrome, rather than a chance association. DBA is a heterogeneous disorder, caused in about 25% of cases by heterozygous mutations in the RPS19 gene (DBA1). Mutation analysis in our cases did not show an RPS19 mutation, and 2 alleles were present in each. Segregation analysis for DBA1 on chromosome 19 and DBA2 on 8p23 was not consistent with linkage. We conclude that this syndrome of microtia, cleft palate and DBA is not allelic to known DBA loci. |
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Authors:
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K W Gripp; D M McDonald-McGinn; D La Rossa; D McGain; N Federman; A Vlachos; B E Glader; S E McKenzie; J M Lipton; E H Zackai |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: American journal of medical genetics Volume: 101 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 2001 Jul |
Date Detail:
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Created Date: 2001-06-25 Completed Date: 2001-07-26 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: United States |
Other Details:
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Languages: eng Pagination: 268-74 Citation Subset: IM |
Copyright Information:
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Copyright 2001 Wiley-Liss, Inc. |
Affiliation:
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Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA. gripp@email.chop.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics,
pathology* Child Child, Preschool Cleft Palate / pathology* Ear, External / abnormalities* Family Health Fanconi Anemia / pathology* Female Humans Infant Male Pedigree Ribosomal Proteins / genetics |
| Grant Support | |
ID/Acronym/Agency:
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01-RR00240/RR/NCRR NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Ribosomal Proteins; 0/ribosomal protein S19 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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