title: 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.
authors.affiliation: Department of Paediatrics, National Taiwan University Hospital, Taipei.
authors.forename: J W
authors.initials: JW
authors.lastname: Hou
authors.forename: T R
authors.initials: TR
authors.lastname: Wang
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002894:Chromosomes, Human, Pair 4; D003914:Dextrocardia / Q000235:genetics; D004480:Ectromelia / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics; D007422:Intestines / Q000002:abnormalities; D011859:Radiography; D013154:Spleen / Q000002:abnormalities