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Townes-Brocks syndrome in an infant with translocation t (5;16)
F Serville1, D Lacombe, R Saura
1Unité de génétique, Hopital Pellegrin-Enfants, Bordeaux.
Genetic Counseling (Geneva, Switzerland)
|January 1, 1993
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.