title: Townes-Brocks syndrome in an infant with translocation t (5;16).
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.
authors.affiliation: Unité de génétique, Hopital Pellegrin-Enfants, Bordeaux.
authors.forename: F
authors.initials: F
authors.lastname: Serville
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
authors.forename: R
authors.initials: R
authors.lastname: Saura
authors.forename: C
authors.initials: C
authors.lastname: Billeaud
authors.forename: M P
authors.initials: MP
authors.lastname: Sergent
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001006:Anus, Imperforate / Q000235:genetics; D002885:Chromosomes, Human, Pair 16; D002895:Chromosomes, Human, Pair 5; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D034381:Hearing Loss / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D011859:Radiography; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities / Q000000981:diagnostic imaging; D014178:Translocation, Genetic