Document Detail

A patient with a de novo 11q24.2-->qter deletion.
MedLine Citation:
PMID:  15083693     Owner:  NLM     Status:  MEDLINE    
In the group of patients with terminal 11q deletion reported up to now. Jacobson syndrome has been delineated as a distinct clinical entity. In the present report we describe the clinical findings in a 3-year old girl with de novo deletion 11q24.2-->11qter, and compare the findings with Jacobson syndrome.
L Spruijt; J P Fryns; J Hanekom; J J Engelen; M Alofs; J C Albrechts; C T Schrander-Stumpel
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Genetic counseling (Geneva, Switzerland)     Volume:  15     ISSN:  1015-8146     ISO Abbreviation:  Genet. Couns.     Publication Date:  2004  
Date Detail:
Created Date:  2004-04-15     Completed Date:  2004-07-20     Revised Date:  2006-07-06    
Medline Journal Info:
Nlm Unique ID:  9015261     Medline TA:  Genet Couns     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  1-7     Citation Subset:  IM    
Department of Clinical Genetics, Academic Hospital Maastricht, Maastricht, The Netherlands.
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MeSH Terms
Child, Preschool
Chromosomes, Human, Pair 11 / genetics*
Craniosynostoses / diagnosis,  genetics
Cytogenetics / methods
Gene Deletion*
Translocation, Genetic / genetics

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