Document Detail


A patient with a de novo 11q24.2-->qter deletion.
MedLine Citation:
PMID:  15083693     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
L Spruijt; J P Fryns; J Hanekom; J J Engelen; M Alofs; J C Albrechts; C T Schrander-Stumpel
Related Documents :
15630323 - Johanson--blizzard syndrome.
751383 - Delineation of syndromes due to partial 6q imbalances. trisomy 6q21 leads to qter and m...
8136553 - Papular-purpuric 'gloves and socks' syndrome: not only parvovirus b19.
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    
Affiliation:
Department of Clinical Genetics, Academic Hospital Maastricht, Maastricht, The Netherlands.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Chromosomes, Human, Pair 11 / genetics*
Craniosynostoses / diagnosis,  genetics
Cytogenetics / methods
Female
Gene Deletion*
Humans
Karyotyping
Phenotype
Translocation, Genetic / genetics

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Neuroprotection with carotenoids in glaucoma
Next Document:  Report of two Turkish infants with Norman-Roberts syndrome.