Document Detail


A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises.
MedLine Citation:
PMID:  15326635     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report on a patient with a de novo 15q24q26.1 interstitial deletion. She presented with developmental delay, behavioral characteristics, and mild dysmorphism with very blue irises. We review the limited literature of interstitial 15q deletions. There was no distinct phenotypic overlap between these two cases in literature and the present patient. Additional reports are necessary in order to establish a possible recognizable deletion 15q24q26.1 phenotype.
Authors:
L Spruijt; J J M Engelen; I P Bruinen-Smeijsters; J C M Albrechts; J Schrander; C T R M Schrander-Stumpel
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  129A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2004 Sep 
Date Detail:
Created Date:  2004-08-24     Completed Date:  2005-03-18     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  312-5     Citation Subset:  IM    
Affiliation:
Department of Clinical Genetics, University hospital Maastricht, Maastricht, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Chromosome Banding
Chromosome Deletion*
Chromosome Disorders / genetics*
Chromosomes, Human, Pair 15 / genetics*
Craniofacial Abnormalities / genetics*
Developmental Disabilities / genetics*
Eye Color / genetics
Female
Humans
In Situ Hybridization, Fluorescence

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


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