%0 Journal Article %A J W Hou %A T R Wang %T Amelia, dextrocardia, asplenia, and congenital short bowel in deleted ring chromosome 4. %D 1996 %R 10.1136/jmg.33.10.879 %J Journal of Medical Genetics %P 879-881 %V 33 %N 10 %X 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. %U https://jmg.bmj.com/content/jmedgenet/33/10/879.full.pdf