title: Exclusion of Treacher Collins Franceschetti syndrome in a subject with tetralogy of Fallot and cryptorchidism.
abstract: Genotyping with flanking DNA markers was used to ascertain Treacher Collins Franceschetti syndrome (TCOF1) in a subject affected by tetralogy of Fallot and cryptorchidism. The proband's family consisted of a father and sister who were affected by the disease, and a healthy mother. Since cardiac malformation and cryptorchidism have been associated with the TCOF1 syndrome, the proband was suspected to be a carrier of the mutated gene. Microsatellite markers D5S527, SPARC and D5S519, which previously mapped the TCOF1 gene within a 2.1-cM interval on chromosome 5 (5q32-33.1), were used to follow the transmission of the TCOF1 mutated locus. Flanking markers D5S519 and D5S527 were informative and enabled us to exclude inheritance of a TCOF1 mutation to the proband, while showing that cardiac malformation and crytorchidism were unrelated in this patient.
authors.affiliation: Clinica Pediatrica, Università La Sapienza Rome, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Bruni
authors.forename: B
authors.initials: B
authors.lastname: Angeletti
authors.forename: E
authors.initials: E
authors.lastname: Pascale
authors.forename: M C
authors.initials: MC
authors.lastname: Tozzi
authors.forename: P
authors.initials: P
authors.lastname: Giammaria
authors.forename: R
authors.initials: R
authors.lastname: Verna
authors.forename: E
authors.initials: E
authors.lastname: D'Ambrosio
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D003456:Cryptorchidism / Q000209:etiology*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis*; D018895:Microsatellite Repeats; D013771:Tetralogy of Fallot / Q000209:etiology*