First case reported of Turner syndrome and trisomy 14 chromosomal mosaicism in a patient.
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.
División de Genética, Centro de Investigación Biomédica de Occidente-Instituto Mexicano del Seguro Social Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, México Universidad de Oriente, Núcleo Bolívar, Unidad de Genética, Ciudad Bolívar, Bolívar, Venezuela.
Luis E
LE
Becerra-Solano
Lisette
L
Arnaud-Lopez
Manuel
M
Diaz-Rodriguez
Johana M
JM
Mantilla-Capacho
Jose A
JA
Nastasi-Catanese
Martha
M
Ortiz-Aranda
Ana I
AI
Vasquez
Luis E
LE
Figuera
D000328:Adult; D002883:Chromosomes, Human, Pair 14; D005260:Female; D006801:Humans; D009030:Mosaicism; D014314:Trisomy; D014424:Turner Syndrome / Q000235:genetics*