Trisomy 14 mosaicism with t(14;15)(q11;p11) in offspring of a balanced translocation carrier mother.
A 2-year-old girl with growth and developmental retardation, minor facial anomalies, asymmetry of face and body, tetralogy of Fallot, and reticular hyperpigmentation of the skin was found to have mosaic trisomy 14 involving a t(14;15)(q11;p11). The patient showed mosaicism for 46,XX cell line, apparently resulting from a break of the translocation chromosome and a subsequent loss of 14q. The mother has a balanced translocation t(14;15)(q11;p11). Inherited trisomy 14 has not been reported previously.
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002901:Chromosomes, Human, 13-15; D003582:Cytogenetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D009030:Mosaicism; D010859:Pigmentation Disorders / Q000235:genetics; D013771:Tetralogy of Fallot / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy