Document Detail


Duplication of the distal long arm of chromosome 15: report of three new patients and review of the literature.
MedLine Citation:
PMID:  15098238     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Patients with trisomies or duplications of distal 15q have rarely been reported in the literature. Previous authors [Zollino et al., 1999: Am J Med Genet 87:391-394] have described a distal 15q trisomy syndrome, including the unusual features of prenatal overgrowth, tall stature, macrocephaly, and craniosynostosis. We report three new patients with a duplication of 15q24-q26.3; features common to the two surviving patients include ptosis, small size, and developmental delay. None of these patients had craniosynostosis or overgrowth. We propose that the previously described distal 15q trisomy syndrome [Zollino et al., 1999: Am J Med Genet 87:391-394] may result from specific disruption of a gene linked to 15q25, rather than partial trisomy for the region.
Authors:
Jennifer A Roggenbuck; Nancy J Mendelsohn; Beverly Tenenholz; Roger L Ladda; James M Fink
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  126A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2004 May 
Date Detail:
Created Date:  2004-04-20     Completed Date:  2004-10-19     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:  398-402     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Affiliation:
Division of Genetics, Children's Hospitals and Clinics, Minneapolis, Minnesota 55404, USA. jennifer.roggenbuck@childrenshc.org
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MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Chromosome Aberrations*
Chromosome Banding
Chromosome Disorders / genetics,  pathology
Chromosomes, Human, Pair 15 / genetics*
Fatal Outcome
Female
Gene Duplication
Growth Disorders / pathology
Humans
In Situ Hybridization, Fluorescence
Infant
Karyotyping
Male
Microcephaly / pathology

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


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