Partial Trisomy 10q from Maternal Balanced Insertion (15;10)(q22;q22q24).

Jun, Hyo Jeong; Kim, Ji Hyun; Choi, Il Jeong; Je, Goo Hwa; Han, Jin Yeong

Case Report

Korean Journal of Obstetrics & Gynecology 2003;46(8):1571-1576.
Published online August 1, 2003.

Partial Trisomy 10q from Maternal Balanced Insertion (15;10)(q22;q22q24).

Hyo Jeong Jun, Ji Hyun Kim, Il Jeong Choi, Goo Hwa Je, Jin Yeong Han

¹Department of Obstetrics and Gynecology, Dong-A University College of Medicine, Busan, Korea.
²Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea.

Abstract

A balanced insertion of a parent may produce normal or carrier offsprings, spontaneous abortions, and chromosomally unbalanced offsprings. This is a rare report of duplication of chromosome 10q22->q24 which has arisen through the segregation of a balanced direct insertion. The partial trisomy 10q is a specific syndrome of mental retardation and malformation characterized by psychomotor delay, growth restriction, distinctive dysmorphic appearances, and, in some cases, cardiac, renal, and ocular abnormalities. We have experienced a case of partial trisomy 10q from maternal balanced insertion, which was prenatally showed severe fetal growth restriction and oligohydramnios, and present it with a brief review of literatures.

Key Words: Partial trisomy 10q, Balanced insertion