title: Partial duplication of 4q12q13 leads to a mild phenotype.
abstract: We report on the second case of duplication (4)(q12q13) with microcephaly, mental retardation, and minor facial anomalies. Duplications involving the distal region of chromosome 4q are well described and share common clinical findings. However, phenotypic abnormalities of duplications of the proximal portion of chromosome 4q are relatively unknown. A comparison of the clinical manifestations of our patient and the single published case suggests that the phenotype of this proximal 4q duplication is relatively mild. This study emphasizes the need to perform chromosome analysis in similar mildly affected/nonspecific cases.
authors.affiliation: Department of Pediatrics, Section on Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, North Carolina 27157, USA.
authors.forename: V
authors.initials: V
authors.lastname: Shashi
authors.forename: M N
authors.initials: MN
authors.lastname: Berry
authors.forename: C
authors.initials: C
authors.lastname: Santos
authors.forename: M J
authors.initials: MJ
authors.lastname: Pettenati
mesh_terms: D000328:Adult; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics; D008875:Middle Aged; D010641:Phenotype