title: Fetal t(5p;21q) misdiagnosed as monosomy 21: a plea for in situ hybridization studies.
abstract: We report a case of 45,XY,-5,-21,+der (5) t(5;21) (p13 or p14;q11.2 or q21) that was prenatally misdiagnosed as complete monosomy 21 and terminated at 24 weeks of gestation. Subsequent fluorescence in situ hybridization studies with a chromosome 21 painting probe documented the cryptic unbalanced translocation.
authors.affiliation: Department of Obstetrics and Gynecology, University of Washington Medical Center, Seattle.
authors.forename: P
authors.initials: P
authors.lastname: Gill
authors.forename: S
authors.initials: S
authors.lastname: Uhrich
authors.forename: C
authors.initials: C
authors.lastname: Disteche
authors.forename: E
authors.initials: E
authors.lastname: Cheng
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5; D003951:Diagnostic Errors; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009006:Monosomy / Q000175:diagnosis* / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic