Severe limb malformations in 4p deletion.
Severe limb anomalies with radial aplasia and hypodactylia are reported in a male newborn with 4p deletion syndrome. In apparent contradiction with previous reports, this finding indicates that the radial aplasia, as frequently observed in patients with ring chromosome 4, seems to be more likely related to the 4p deletion, rather than to the 4q deletion.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002905:Chromosomes, Human, 4-5; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D011884:Radius / Q000002:abnormalities