A Case of Normal Delivery of a Fetus with Prenatally Diagnosed 47,XYY,inv(9)(p11;q13) / 대한주산의학회잡지

ABSTRACT

A 35-year-old multigravida woman received triple marker screening tests in 16weeks 2days of gestation. MSAFP and MShCG values were increased, whereas MSuE3 value was decreased. So we performed amniocentesis for karyotyping and confirmed male fetus with 47,XYY,inv(9)(p11q13). A neonatal survey showed the incidence of XYY male to be approximately 11000, the majority of cases are phenotypically normal. XYY males are taller than normal and show delayed mental development. A pericenteric inversion of chromosome 9 that extends from p11 to q13 is considered a normal chromosome variant, but the carrier is at high risk to produce abnormal offspring. As she did not want to terminate her pregnancy, she delivered vaginally in 39weeks 6days of gestation. As a result of physical examination, the neonate showed a normal phenotype. We report it with brief review.