Article
Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature.
BMC medical genetics - 25 Jun 2014
Vona Barbara, Nanda Indrajit, Neuner Cordula, Schröder Jörg, Kalscheuer Vera M, Shehata-Dieler Wafaa, Haaf Thomas
Abstract excerpt
BACKGROUND: Terminal 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. CASE PRESENTATION: Herein, we describe a boy with...
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