Trisomy 14 mosaicism with t(14;15)(q11;p11) in offspring of a balanced translocation carrier mother
- 1 October 1985
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 22 (2) , 333-342
- https://doi.org/10.1002/ajmg.1320220217
Abstract
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.Keywords
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