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  • Title: Townes-Brocks syndrome in an infant with translocation t (5;16).
    Author: Serville F, Lacombe D, Saura R, Billeaud C, Sergent MP.
    Journal: Genet Couns; 1993; 4(2):109-12. PubMed ID: 8357560.
    Abstract:
    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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