Turner Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Turner Syndrome, including details on symptoms, causes, chromosomes, prognosis.

First case reported of Turner syndrome and trisomy 14 chromosomal mosaicism in a patient.

Becerra-Solano LE, Arnaud-Lopez L, Diaz-Rodriguez M, Mantilla-Capacho JM, Nastasi-Catanese JA, Ortiz-Aranda M, Vasquez AI, Figuera LE

División de Genética, Centro de Investigación Biomédica de Occidente-Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.

A 25-year-old woman with a mosaic 45,X/47XX,+14 karyotype is reported. She presented with short stature, short downward slanting palpebral fissures, broad nasal bridge, mouth with downturned corners, short and wide neck, swirly hyperpigmentation of the skin, and body asymmetry secondary to right hemihyperplasia. As there was an admixture of 45,X and trisomy 14, it was not possible to determine the cell line that had the greatest influence on the phenotype. We postulate that the proposita's survival until the third decade was owing to the chromosomal complementation of both aneuploidy cell lines. To our knowledge, this chromosomal association has not been previously reported.

Published 30 November 2007 in Clin Dysmorphol, 17(1): 27-30.
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