Document Detail

Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia.
MedLine Citation:
PMID:  11424144     Owner:  NLM     Status:  MEDLINE    
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.
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:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of medical genetics     Volume:  101     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2001 Jul 
Date Detail:
Created Date:  2001-06-25     Completed Date:  2001-07-26     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  268-74     Citation Subset:  IM    
Copyright Information:
Copyright 2001 Wiley-Liss, Inc.
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
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MeSH Terms
Abnormalities, Multiple / genetics,  pathology*
Child, Preschool
Cleft Palate / pathology*
Ear, External / abnormalities*
Family Health
Fanconi Anemia / pathology*
Ribosomal Proteins / genetics
Grant Support
Reg. No./Substance:
0/Ribosomal Proteins; 0/ribosomal protein S19

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