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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
1993-9-28
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pubmed:abstractText |
We report the occurrence of Townes-Brocks syndrome (TBS) in an infant with a two break reciprocal translocation between chromosome 5 and chromosome 16. The occurrence of both abnormalities in the same subject could be due to chance. However, it is of interest to note that a familial case of TBS associated with an inv(16) with the same breakpoint at 16q12.1 has been reported. We suggest the possible disruption of the TBS gene at this breakpoint.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:issn |
1015-8146
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
4
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
109-12
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pubmed:dateRevised |
2006-7-6
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pubmed:meshHeading |
pubmed-meshheading:8357560-Abnormalities, Multiple,
pubmed-meshheading:8357560-Anus, Imperforate,
pubmed-meshheading:8357560-Chromosomes, Human, Pair 16,
pubmed-meshheading:8357560-Chromosomes, Human, Pair 5,
pubmed-meshheading:8357560-Ear, External,
pubmed-meshheading:8357560-Female,
pubmed-meshheading:8357560-Hearing Loss,
pubmed-meshheading:8357560-Humans,
pubmed-meshheading:8357560-Infant, Newborn,
pubmed-meshheading:8357560-Karyotyping,
pubmed-meshheading:8357560-Syndrome,
pubmed-meshheading:8357560-Thumb,
pubmed-meshheading:8357560-Translocation, Genetic
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pubmed:year |
1993
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pubmed:articleTitle |
Townes-Brocks syndrome in an infant with translocation t (5;16).
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pubmed:affiliation |
Unité de génétique, Hopital Pellegrin-Enfants, Bordeaux.
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pubmed:publicationType |
Journal Article,
Case Reports
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