Incidental detection of premature centromere separation in amniocytes associated with a mild form of Roberts syndrome.
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.
Stanley
W S
WS
Department of Pathology, Medical University of South Carolina, Charleston 29425-0688.
Pai
G S
GS
Horger
E O
EO
Yan
Y S
YS
McNeal
K S
KS
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