| Upper airway malformation associated with partial trisomy 11q. | |
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MedLine Citation:
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PMID: 12838551 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Hui-quan Zhao; Alan F Rope; Howard M Saal; Ruthann I Blough-Pfau; Robert J Hopkin |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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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:
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Created Date: 2003-07-02 Completed Date: 2004-02-18 Revised Date: 2008-05-21 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 331-7 Citation Subset: IM |
Copyright Information:
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Copyright 2003 Wiley-Liss, Inc. |
Affiliation:
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Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Ohio 45229, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics,
pathology Child Child, Preschool Chromosomes, Human, Pair 11* Epiglottis / abnormalities*, pathology Female Humans Infant Infant, Newborn Lung Diseases, Obstructive / genetics*, pathology Male Trisomy / pathology* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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