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Upper airway malformation associated with partial trisomy 11q
Author(s) -
Zhao Huiquan,
Rope Alan F.,
Saal Howard M.,
BloughPfau Ruthann I.,
Hopkin Robert J.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20134
Subject(s) - epiglottis , trisomy , hypotonia , medicine , chromosomal translocation , airway obstruction , anatomy , airway , pediatrics , biology , larynx , surgery , genetics , gene
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. © 2003 Wiley‐Liss, Inc.