Recurrent Partial Trisomy 1q in Maternal Balanced Translocation t(1;11)(q32;q23).

Song, Geun A; Kwak, Bong Gyu; Cha, Moon Seok; Je, Goo Hwa; Han, Jin Yeong; Shaffer, Lisa G

Case Report

Korean Journal of Obstetrics & Gynecology 2000;43(2):338-342.
Published online January 1, 2001.

Recurrent Partial Trisomy 1q in Maternal Balanced Translocation t(1;11)(q32;q23).

Geun A Song, Bong Gyu Kwak, Moon Seok Cha, Goo Hwa Je, Jin Yeong Han, Lisa G Shaffer

Abstract

Abnormal offsprings from balanced translocation carriers usually inherit only one of the translocated products and are therefore partially trisomic for one chromosome and partially monosomic for another. Partial trisomy 1q usually demonstrates fetal growth restriction and anomalies of head, face, urogenital tract, heart, finger and toes with a wide range of characteristics and severities. It has been reported in a few individuals in the world and this is the first report of partial trisomy 1q in Korea. We present the case of recurrent partial trisomy 1q in maternal balanced translocation which was prenatally diagnosed by amniocentesis with fluorescence in situ hybridization(FISH) based on abnormal ultrasonographic findings and poor obstetric history.

Key Words: Partial trisomy 1q, FISH, Maternal balanced translocation, Prenatal diagnosis