1.
SQUMJ-Sultan Qaboos University Medical Journal. 2013; 13 (2): 311-317
en Inglés
| IMEMR
| ID: emr-126037
RESUMEN
Female carriers of balanced translocations involving an X chromosome and an autosome present genetic councelling challenges. This is in view of the number of possible meiotic outcomes, but also due to the impact of X chromosome-localised genes that are no longer subject to gene silencing through the X chromosome inactivation centre. We present a case where delineation of the extent of X chromosome-localised genes on the derivative autosome using molecular karyotyping offers critical information in the context of genetic councelling