Liang Yan, Luo Xiao-ping
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430030 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Aug;22(4):435-7.
To identify the origin of marker chromosome of patients with Turner syndrome, and to provide the information for genetic counseling and treatment.
The karyotypes of 32 patients with Turner syndrome from 2001 to 2003 at the Center for Diagnosis of Genetic Metabolic Diseases were reviewed. Metaphase chromosome analyses of peripheral blood lymphocytes, G-band and C-band were performed using standard methods. Fluorescence in situ hybridization (FISH) was performed to identify the origin of marker chromosome by using two probes: sex-determining region Y (SRY) for band region Yp11.3 and chromosome enumeration probe for X(CEPX) for band region Xp11.1-q11.1.
3/32(9.4%) patients with Turner syndrome had marker chromosome, the karyotype being 45,X/46,X,mar. Among the 3 marker chromosomes, 2 originated from chromosome X or Y, as identified by the FISH. The origin of the third marker chromosome could not be identified by CEPX and SRY probes.
The presence of a marker chromosome in Turner syndrome generally implicates a sex chromosome origin. It may also originate from a non-sex chromosome. Therefore, it is necessary to apply X and Y probes simultaneously for marker chromosome detection in Turner patients with monosomy X.
确定特纳综合征患者标记染色体的来源，为遗传咨询和治疗提供信息。
回顾了2001年至2003年在遗传代谢疾病诊断中心的32例特纳综合征患者的核型。采用标准方法对外周血淋巴细胞进行中期染色体分析、G带和C带分析。使用两种探针进行荧光原位杂交（FISH）以鉴定标记染色体的来源：用于Yp11.3带区的性别决定区Y（SRY）探针和用于Xp11.1-q11.1带区的X染色体计数探针（CEPX）。
32例特纳综合征患者中有3例（9.4%）有标记染色体，核型为45,X/46,X,mar。在这3条标记染色体中，经FISH鉴定，有2条起源于X或Y染色体。第三条标记染色体的起源无法用CEPX和SRY探针鉴定。
特纳综合征中标记染色体的存在通常提示性染色体起源。它也可能起源于非性染色体。因此，对于X单体型的特纳患者，在检测标记染色体时，有必要同时应用X和Y探针。
