title: Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome.
abstract: Holt-Oram syndrome, the major "heart-hand" syndrome is defined by the association of radial defects or triphalangeal thumbs and septal heart defects. The transmission is autosomal dominant and the causative gene has been shown to be TBX5, located on 12q24.1, which encodes a transcription factor. Genetic heterogeneity has been suggested by several reports. We identified a 14(q23.3 approximately 24.2q31.1) deletion in a boy presenting severe bilateral asymmetrical radial aplasia, congenital heart defects, and developmental delay. This deletion, whose size could be estimated to be 9.6-13.7 Mb, was shown to be inherited via his mother's interchromosomal insertion. This is the second report of a chromosome 14 interstitial deletion associated with clinical features of Holt-Oram syndrome. These observations suggest the existence of a new "heart-hand" locus on chromosome 14q.
authors.affiliation: Department of Genetics, University Hospital, Rouen, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Le Meur
authors.forename: Alice
authors.initials: A
authors.lastname: Goldenberg
authors.forename: Christine
authors.initials: C
authors.lastname: Michel-Adde
authors.forename: Valérie
authors.initials: V
authors.lastname: Drouin-Garraud
authors.forename: Gérard
authors.initials: G
authors.lastname: Blaysat
authors.forename: Stéphane
authors.initials: S
authors.lastname: Marret
authors.forename: Saad Abu
authors.initials: SA
authors.lastname: Amara
authors.forename: Hélène
authors.initials: H
authors.lastname: Moirot
authors.forename: Géraldine
authors.initials: G
authors.lastname: Joly-Hélas
authors.forename: Bertrand
authors.initials: B
authors.lastname: Mace
authors.forename: Pascale
authors.initials: P
authors.lastname: Kleinfinger
authors.forename: Pascale
authors.initials: P
authors.lastname: Saugier-Veber
authors.forename: Thierry
authors.initials: T
authors.lastname: Frébourg
authors.forename: Annick
authors.initials: A
authors.lastname: Rossi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D017809:Fatal Outcome; D006228:Hand Deformities, Congenital / Q000473:pathology*; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D013577:Syndrome