Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome.
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.
Le Meur
Nathalie
N
Department of Genetics, University Hospital, Rouen, France.
Goldenberg
Alice
A
Michel-Adde
Christine
C
Drouin-Garraud
Valérie
V
Blaysat
Gérard
G
Marret
Stéphane
S
Amara
Saad Abu
SA
Moirot
Hélène
H
Joly-Hélas
Géraldine
G
Mace
Bertrand
B
Kleinfinger
Pascale
P
Saugier-Veber
Pascale
P
Frébourg
Thierry
T
Rossi
Annick
A
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