Characteristics of Interstitial Deletion in Chromosome 4q Confirmed by Array Comparative Genomic Hybridization: A Case Report and Literature Review

Chromosome 4q deletion syndrome is a rare disease caused by partial deletion of the long arm of chromosome 4. Phenotypic severity and expressivity vary among patients with chromosome 4q deletions, depending on the size and region of the deletion of the affected chromosome. Although there have been many reports of proximal 4q deletion cases, very few have been confirmed by high-resolution array comparative genomic hybridization (aCGH). In the current study, we presented a new case of 4q proximal deletion, with detailed genetic and clinical characteristics, and compared these characteristics to those of six previous cases with available aCGH data. According to our review, several genes known to be associated with specific phenotypes of 4q12q21.1 deletion cannot sufficiently explain the variable phenotypes observed among the cases. These phenotypes include mental retardation, microcephaly, ocular anomalies, dental anomaly, and piebaldism. Consequently, we recommend further detailed investigations into the genes associated with 4q12q21.1 deletion to assist in identifying genotype-phenotype associations more clearly. KCI Citation Count: 0