A case report of Fanconi anemia diagnosed by genetic testing followed by prenatal diagnosis.

ABSTRACT: Fanconi anemia (FA) is a rare genetic disorder affecting multiple body systems. Genetic testing, including prenatal testing, is a prerequisite for the diagnosis of many clinical conditions. However, genetic testing is complicated for FA because there are often many genes that are associated with its development, and large deletions, duplications, or sequence variations are frequently found in some of these genes. This study describes successful genetic testing for molecular diagnosis, and subsequent prenatal diagnosis, of FA in a patient and his family in Korea. We analyzed all exons and flanking regions of the FANCA, FANCC, and FANCG genes for mutation identification and subsequent prenatal diagnosis. Multiplex ligation-dependent probe amplification analysis was performed to detect large

SUBMITTER: Lee HJ 

PROVIDER: S-EPMC3427829 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature