X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome

Abstract

We describe a case of X monosomy associated with a maternally inherited t(13;14) Robertsonian translocation in a girl with Turner syndrome. The girl's X chromosome was demonstrated to be maternally inherited, ruling out the hypothesis that the translocation exerted an interchromosomal effect on the origin of the monosomy. Chromosomes 13 and 14 showed biparental inheritance.

Keywords

• Robertsonian translocation
• X monosomy
• interchromosomal effect