A case of prenatally diagnosed Non-15, Non-22 marker chromosome.

Song, Seong Rae; Song, Ji Hyun; Song, Jae Hun; Jung, Young Wook; Lee, Suk Soo; Kim, Moon Hee

Case Report

Korean Journal of Obstetrics & Gynecology 2005;48(2):480-483.
Published online February 1, 2005.

A case of prenatally diagnosed Non-15, Non-22 marker chromosome.

Seong Rae Song, Ji Hyun Song, Jae Hun Song, Young Wook Jung, Suk Soo Lee, Moon Hee Kim

¹Department of Obstetics and Gynecology, Sun Genenal Hospital, Daejeon, Korea. mdsong@hanmail.net
²Department of Laboratory Medicine, Sun Genenal Hospital, Daejeon, Korea.

Abstract

Midtrimester genetic amniocentesis is an important diagnostic tool in prenatal genetic diagnosis and counseling. We can identify karyotypes with metaphase chromosome analysis of cultured amniocytes. Marker chromosomes are defined as unidentified structurally abnormal chromosomes. Incidence of marker chromosomes in the previous reported studies was 0.6-1.5/1,000. They occurred more frequently with advanced maternal age. Ascertainment of chromosomal origin is important because it may be associated with malformation and developmental abnormalities. Recently, identification of the origin and composition of marker chromosomes has been made possible by the use of fluorescent in situ hybridization (FISH). Most marker chromosomes are known to be originated from chromosome 15 or 22, X, Y. We have experienced a case of non-15, non-22 marker chromosome prenatally detected in amniocentesis and FISH, so we reported it with a brief review of literature.

Key Words: Marker chromosome, Amniocentesis, FISH