EXCLUSION OF TREACHER-COLLINS FRANCESCHETTI SYNDROME IN A SUBJECT WITH TETRALOGY OF FALLOT AND CRYPTORCHIDISM

Genotyping with flanking DNA markers was used to ascertain Treacher Co llins Franceschetti syndrome (TCOF1) in a subject affected by tetralog y of Fallot and cryptorchidism. The proband's family consisted of a fa ther and sister who were affected by the disease, and a healthy mother . Since cardiac malformation and cryptorchidism have been associated w ith the TCOF1 syndrome, the proband was suspected to be a carrier of t he mutated gene. Microsatellite markers D5S527, SPARC and D5S519, whic h previously mapped the TCOF1 gene within a 2.1-cM interval on chromos ome 5 (5q32-33.1), were used to follow the transmission of the TCOF1 m utated 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 cryptorchidism were unrela ted in this patient.