title: Upper airway malformation associated with partial trisomy 11q.
abstract: 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.
authors.affiliation: Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Ohio 45229, USA.
authors.forename: Hui-quan
authors.initials: HQ
authors.lastname: Zhao
authors.forename: Alan F
authors.initials: AF
authors.lastname: Rope
authors.forename: Howard M
authors.initials: HM
authors.lastname: Saal
authors.forename: Ruthann I
authors.initials: RI
authors.lastname: Blough-Pfau
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Hopkin
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11; D004825:Epiglottis / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008173:Lung Diseases, Obstructive / Q000235:genetics* / Q000473:pathology; D008297:Male; D014314:Trisomy / Q000473:pathology*