7p15 deletion as the cause of hand-foot-genital syndrome: a case report literature review and proposal of a minimum region for this phenotype

摘要

BackgroundHand-foot-genital syndrome (HFGS) is a rare condition characterized by congenital malformations in the limbs and genitourinary tract. Generally, this syndrome occurs due to point mutations that cause loss of function of the HOXA13 gene, which is located on 7p15; however, there are some patients with HFGS caused by interstitial deletions in this region.