Partial distal 6p trisomy in a malformed fetus.
A 19-week-old fetus with 6p trisomy, as the unbalanced product of a maternal 6p/22q translocation (karyotype: 46,XX,t(6;22)(p22;q13)) is described. Internal malformations include abnormal lung lobulation, renal hypoplasia and crossed ectopia, and intestinal malrotation.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007422:Intestines / Q000002:abnormalities; D007668:Kidney / Q000002:abnormalities; D008168:Lung / Q000002:abnormalities; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy