The tale of a nail continues; further delineation using CGHarray of the critical region at 4q34 causing the wolar nail sign

摘要

The 4q deletion syndrome is a rare condition with an estimated incidence of 1/100 000 (Strehle et al., 2012). Data on genotype-phenotype correlations within 4q are rare, and the clinical phenotype is highly variable: features can include craniofacial; developmental; skeletal; and cardiac manifestations. Clinical overlap with features seen in the 22qll deletion syndrome is well recognized (Greenberg etal. 1988).