Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies.

Partial trisomy of the region 12q24.1-->q24.2 is rare and usually associated with other rearrangements. We report on the clinical and cytogenetic findings in a girl with a pure de novo direct duplication dup(12)(q24.1-->q24.2). She had developmental and growth retardation, facial dysmorphism with upslanting palpebral fissures, wide downturned mouth, short neck, and Marcus Gunn phenomenon. She also had single transverse creases, hypoplasia of the corpus callosum, and cardiac malformations consisting of a bicuspid aortic valve, multiple ventricular septal defects, and kinking of the aorta. The size of the duplication was characterized by molecular cytogenetics and comparative genomic hybridization (CGH) to be 11.5 Mb in size and extended from the BAC probe RP11-256L11 loci (108.2 Mb) +/- 1 Mb to the BAC probe RP11-665J20 loci (119.7 Mb) +/- 1 Mb. No such pure 12q24 duplication was detected out of the 23 patients reported in the literature with duplications in 12q region. Comparison with these reported 12q trisomies suggests the duplication dup(12)(q24.1-->q24.2) is associated with a recognizable phenotype consisting of characteristic facial dysmorphism, growth retardation, and cardiac malformation.