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Trisomy 14 mosaicism: clinical and cytogenetic findings in an adult

Trisomy 14 mosaicism is a well-known but rare chromosomal defect with most frequently reported features being growth retardation, psychomotor retardation, broad nose, dysplastic and/or apparently low set ears, micrognathia, short neck, congenital heart disease and, in males, micropenis and cryptorchidism. Other frequent findings are prominent forehead, hyperteleorism, narrow palpebral fissures, large mouth, cleft or highly arched palate, body asymmetry and abnormal skin-pigmentation (Fujimoto et al., 1992). To the best of our knowledge, only one adult patient with trisomy 14 mosaicism has been described so far (Fujimoto et al., 1992). We present the clinical findings in a 27-year-old woman to add to the knowledge of the adult phenotype of trisomy 14 mosaicism and to demonstrate the findings on fibroblast culture.