Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature

摘要

BackgroundTerminal deletions of chromosome 4q are associated with a broad spectrum of phenotypes including cardiac, craniofacial, digital, and cognitive impairment. The rarity of this syndrome renders genotype-phenotype correlation difficult, which is further complicated by the widely different phenotypes observed in patients sharing similar deletion intervals.