title: Incidental detection of premature centromere separation in amniocytes associated with a mild form of Roberts syndrome.
abstract: Premature centromere separation (PCS) was detected in amniocytes after an amniocentesis was done because of markedly elevated maternal serum alpha-fetoprotein values in a healthy primiparous young woman. PCS has been associated with the Roberts-SC phocomelia syndrome (RS). By 23 weeks' gestation, ultrasonic evaluations did not reveal abnormal fetal development. The pregnancy continued and a male infant was born with mild manifestations of RS. PCS was confirmed in cord blood lymphocytes. This case illustrates that PCS, when detected in amniotic fluid cell cultures, requires a thorough evaluation.
authors.affiliation: Department of Pathology, Medical University of South Carolina, Charleston 29425-0688.
authors.forename: W S
authors.initials: WS
authors.lastname: Stanley
authors.forename: G S
authors.initials: GS
authors.lastname: Pai
authors.forename: E O
authors.initials: EO
authors.lastname: Horger
authors.forename: Y S
authors.initials: YS
authors.lastname: Yan
authors.forename: K S
authors.initials: KS
authors.lastname: McNeal
mesh_terms: D000328:Adult; D000649:Amniocentesis; D000650:Amnion / Q000166:cytology*; D002503:Centromere / Q000032:analysis*; D002875:Chromosomes / Q000032:analysis*; D004480:Ectromelia / Q000175:diagnosis*; D005260:Female; D006801:Humans; D011247:Pregnancy; D013577:Syndrome