Identification of a marker chromosome as inv dup(15) by molecular analysis

Abstract

The origin of an extra marker chromosome in a patient with mental retardation and intractable epilepsy was ascertained by DNA analysis. Gene dose and restriction fragment length polymorphism (RFLP) studies of D15S9 proved that the patient was tetrasomic for the gene and that the extra chromosome was of maternal origin. On the basis of the molecular findings, further detailed GTG-banded chromosome analysis interpreted the marker chromosome as inv dup(15)(pter----q14::q14----pter). The clinical manifestations of the patient are consistent with those of the patients previously described.