Korean J Perinatol.  2002 Jun;13(2):185-189.

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

• Koo JS
• Joo HC
• Lee DK
• Jeon JH
• Lee JM

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)(p11:q13). A neonatal survey showed the incidence of XYY male to be approximately 1:1000, 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.

Keyword

Triple marker; Amniocentesis; 47,XYY; inv(9)(p11:q13); Pericenteric inversion

MeSH Terms

Adult
Amniocentesis
Chromosomes, Human, Pair 9
Female
Fetus*
Humans
Incidence
Infant, Newborn
Karyotyping
Male
Mass Screening
Phenotype
Physical Examination
Pregnancy