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Target Concepts:
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Query: UMLS:C0265264 (
HOS
)
1,119
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome. 1581 3
