Amelia, dextrocardia, asplenia, and congenital short bowel in deleted ring chromosome 4.

Abstract

We report a female baby with multiple congenital anomalies including left upper amelia, congenital short bowel with malrotation and pseudo-obstruction, dextrocardia with situs solitus, patent ductus arteriosus, and a tiny atrophic spleen. Chromosome study showed de novo 46,XX/46,XX,-4, + r(4)(p16-->q22.3)/47,XX,4, + r(4) (p16-->q22.3), + del(4)(pter-->q22.3:). The clinical findings in the patient were probably caused by the interaction of partial trisomy 4pter-->q22.3 or 4p16-->q22.3 and partial monosomy of 4q22.3-->4qter. This karyotype and phenotype have not previously been reported.