Partial Trisomy 10q from Maternal Balanced Insertion (15;10)(q22;q22q24).
- Author:
Hyo Jeong JUN
1
;
Ji Hyun KIM
;
Il Jeong CHOI
;
Goo Hwa JE
;
Jin Yeong HAN
Author Information
1. Department of Obstetrics and Gynecology, Dong-A University College of Medicine, Busan, Korea.
- Publication Type:Case Report
- Keywords:
Partial trisomy 10q;
Balanced insertion
- MeSH:
Abortion, Spontaneous;
Female;
Fetal Development;
Humans;
Intellectual Disability;
Oligohydramnios;
Parents;
Pregnancy;
Trisomy*
- From:Korean Journal of Obstetrics and Gynecology
2003;46(8):1571-1576
- CountryRepublic of Korea
- Language:Korean
-
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.