Prenatal diagnosis and molecular cytogenetic characterization of hereditary complex chromosomal rearrangements in a Chinese family.

OBJECTIVES:To report a family with an extremely rare and previously undescribed complexchromosomalrearrangement (CCR). To explore the molecular cytogenetic mechanism of 'octaradial chromosome'. MATERIAL AND METHODS:G-banding karyotype analysis was performed on all the members of the family. Chromosomal microarray analysis(CMA) was performed on the five members of the family. RESULTS:This case presented with a karyotypically balanced CCR (46,XX,t(2;4;11;5)(p21;q34;q21;p15)). The familial CCR was stably transmitted across three generations. CONCLUSIONS:We report an extremely rare and previously undescribed complexchromosomal arrangement that is transmitted across three generations. The clinical outcome of this CCR is complex. Careful characterization of all the breakpoint regions is required for prenatal diagnosis and genetic counseling.