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Preferential Inactivation of a dupX(q23 → q27–28) Chromosome in a Girl with Mental Retardation and Dysmorphy

We report on an 18-year-old female with de novo tandem duplication Xq23→Xq27–28. The breakpoints of the duplication segment have been mapped by FISH using a panel of locus specific YACs. Despite selective inactivation of the aberrant X chromosome, proven by a combination of molecular and cytogenetic studies, the patient exhibits mental retardation, dysmorphic features and short stature. Possible mechanisms explaining this unexpected finding are discussed.