Nakamura Y, Sato E, Sakai K, Sakuma S, Hashimoto T, Sindou S
Department of Medical Technology, St Mary's Hospital, Kurume, Japan.
Arch Pathol Lab Med. 1990 Feb;114(2):185-7.
We describe three cases with abnormal chromosome 9. Patient 1 shows translocation in a homologous chromosome, with a karyotype of 46,XX,t(9;9)(9pter----cen----9pter; 9qter----cen::9q13----9qter), 1qh+. This case has a variety of anomalies, including brain anomalies. Patient 2 shows a partial trisomy 9p with a karyotype of 47,XY,+del(9)(pter----q11:). The patient has the typical clinical features of 9p trisomy syndrome. Patient 3 is unique because of partial 9p tetrasomy mosaicism without phenotypic abnormalities; the karyotype is mos 46,XY/47,XY,+dic(9)(pter----cen----q21::q21----cen----pter).
我们描述了三例9号染色体异常的病例。病例1显示同源染色体易位，核型为46,XX,t(9;9)(9pter→cen→9pter; 9qter→cen::9q13→9qter)，1qh+。该病例有多种异常，包括脑部异常。病例2显示9p部分三体，核型为47,XY,+del(9)(pter→q11:)。该患者具有9p三体综合征的典型临床特征。病例3很独特，因为存在9p部分四体嵌合体且无表型异常；核型为mos 46,XY/47,XY,+dic(9)(pter→cen→q21::q21→cen→pter)。
