A Case of a del(8p)/dup(8q) Recombinant Chromosome

ABSTRACT

A male baby with intrauterine growth retardation had a short neck, small hands and feet, hypospadia, both grade I hydronephrosis, type II atrial septal defect, and moderate valvular pulmonary stenosis. The routine chromosome and banding analyses revealed a 46,XY,rec(8)del(8)(p21)dup(8) (q24.1)inv(8)(p21q24.1)pat chromosome constitution. His mother has normal chromosomes, but the father had 46,XY,inv(8)(p21q24.1). Also his uncle had an inv(8) chromosome constitution. We used lymphocytes and examined 40 mitotic cells. All mitotic cells showed deletion of 8p21-->pter and duplication of 8q24.1-->qter. Because 8p21 involves secretion of macrophage and lymphocyte against cancer cells, long-term follow-up for cancer will be needed.