title: A case of mosaic trisomy 2 diagnosed at amniocentesis in an abnormal fetus and confirmed in multiple fetal tissues.
abstract: Pseudomosaicism for trisomy 2 is a relatively common finding at amniocentesis. However, genuine trisomy 2 mosaicism is extremely rare. As a result, very few cases have been described and little information is available with which to counsel the parents of an affected fetus. We describe a case of mosaic trisomy 2 diagnosed at amniocentesis in a fetus with multiple anomalies on ultrasound scan. Following termination of pregnancy, the fetus was found to have mild dysmorphic features, together with an absent gall bladder, cystic left kidney, a 13th left rib and mild unilateral talipes. The presence of trisomy 2 cells was confirmed by both standard cytogenetic analysis and fluorescent in-situ hybridisation techniques in multiple fetal tissues, as well as in the cord and placenta.
authors.affiliation: St. Mary's Hospital for Women and Children, Manchester, UK.
authors.forename: J
authors.initials: J
authors.lastname: Robinson
authors.forename: H
authors.initials: H
authors.lastname: Stewart
authors.forename: L
authors.initials: L
authors.lastname: Moore
authors.forename: L
authors.initials: L
authors.lastname: Gaunt
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D000649:Amniocentesis; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007668:Kidney / Q000473:pathology; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D014314:Trisomy