Document Detail

Upper airway malformation associated with partial trisomy 11q.
MedLine Citation:
PMID:  12838551     Owner:  NLM     Status:  MEDLINE    
11q trisomy is associated with a recognizable pattern of multiple malformations. Review of the literature reveals the following recurrent themes common to complex and isolated 11q trisomy: mental retardation, pre- and postnatal growth retardation, hypotonia, a distinct pattern of facial features, congenital heart defects, and limb malformations. We report four patients with partial trisomy 11q, none of which arose from the common 11/22 translocation. Three of the four patients had the previously unreported finding of upper airway obstruction secondary to a malformed epiglottis. The critical region for this malformation appears to be 11q21-23.2.
Hui-quan Zhao; Alan F Rope; Howard M Saal; Ruthann I Blough-Pfau; Robert J Hopkin
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  120A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2003 Jul 
Date Detail:
Created Date:  2003-07-02     Completed Date:  2004-02-18     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:  331-7     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Ohio 45229, USA.
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MeSH Terms
Abnormalities, Multiple / genetics,  pathology
Child, Preschool
Chromosomes, Human, Pair 11*
Epiglottis / abnormalities*,  pathology
Infant, Newborn
Lung Diseases, Obstructive / genetics*,  pathology
Trisomy / pathology*

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