Exclusion of Treacher Collins Franceschetti syndrome in a subject with tetralogy of Fallot and cryptorchidism.
Clin Genet
; 50(2): 89-92, 1996 Aug.
Article
in En
| MEDLINE
| ID: mdl-8937767
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Tetralogy of Fallot
/
Abnormalities, Multiple
/
Chromosomes, Human, Pair 5
/
Cryptorchidism
/
Mandibulofacial Dysostosis
Type of study:
Diagnostic_studies
Limits:
Adult
/
Humans
/
Male
Language:
En
Journal:
Clin Genet
Year:
1996
Document type:
Article
Affiliation country:
Italia