Summary
A malformed male infant showed a mosaic trisomy 14 with a karyotype of mos 46,XY/46,XY,−14,+i(14q). The mosaicism was found both in peripheral blood cultures and in lymphoblastoid cells transformed by EB virus infection. His clinical picture was compared with those of 5 previously reported cases of trisomy 14 mosaicism, and the following common phenotypic features were noted: growth retardation, psychomotor delay, narrow or asymmetrical palpebral fissures, broad nose, low-set and dysplastic ears, high-arched palate, micrognathia, short neck, congenital heart disease, and undescended testes.
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Ozawa, N., Xu, ZD., Soh, Ki. et al. A case of mosaic trisomy 14 due to an isochromosome, i(14q). Jap J Human Genet 29, 69–76 (1984). https://doi.org/10.1007/BF01876761
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DOI: https://doi.org/10.1007/BF01876761