Summary
We describe two siblings with distal 14q trisomy resulting from a maternal translocation t(5;14)(p15.33;q31.2): a male newborn infant who died at the age of 1 month and a prenatally diagnosed male fetus. They showed almost identical phenotypic abnormalities. Review of the literature suggests the occurrence of a distal 14q trisomy syndrome, which is clinically characterized by mental retardation, growth failure, frontal bossing, facial asymmetry, hypertelorism, sparse eyebrows and eyelashes, short prominent nose, cupid bow upperlip, micrognathia, and low-set and posteriorly rotated ears. It seems likely that triplication of the segment 14q32.1→qter is critical for clinical manifestation of this syndrome.
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Wakita, Y., Narahara, K., Kikkawa, K. et al. Distal 14q trisomy syndrome in two siblings: Further delineation of its phenotype. Jap J Human Genet 33, 469–475 (1988). https://doi.org/10.1007/BF01897788
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DOI: https://doi.org/10.1007/BF01897788