Korean J Obstet Gynecol.  1999 Sep;42(9):2111-2114.

One Case of Prenatal diagnosed 48, XXYY

• Cho JC
• Shin OC
• Kim JH
• Hong SH
• Kang CS
• An KB
• Wang YM
• Park JK

Abstract

Despite the rarity of 48, XXYY, having an incidence rate of 1 in 50,000 persons, 1 in 300 persons are reported to have a mental disorder of criminal behavior. The clinical characterics of 48, XXYY are similar to Klinefelter's syndrome such as small testis, tall stature, gynecomastia and can show mental retardation and skeletal anomaly. When the cause of elevated maternal serum AFP is not explained by USG or measurement of amniotic fluid AFP, during the second trimester of pregnancy, it is defined as unexplained elevation of maternal serum AFP. We report a case of 48, XXYY with unexplained elevation of maternal serum AFP which has been experienced in our hospital with brief review of literature.

Keyword

XXYY; Unexplained elevation of maternal serum AFP

MeSH Terms

Amniotic Fluid
Criminals
Female
Gynecomastia
Humans
Incidence
Intellectual Disability
Klinefelter Syndrome
Male
Mental Disorders
Pregnancy
Pregnancy Trimester, Second
Testis