两例Turner综合征患者微小额外标记染色体来源鉴定  

Identification of the small supernumerary marker chromosomes in two patients with Turner syndrome

作　　者：文娟[1] 梁德生[1] 廖希[1] 薛晋杰[1] 唐桂芝[1] 夏艳[1] 龙志高[1] 戴和平[1] 邬玲仟[1] 

机构地区：[1]中南大学医学遗传学国家重点实验室,长沙410078

出　　处：《中华医学遗传学杂志》2009年第6期659-663,共5页Chinese Journal of Medical Genetics

基　　金：基金项目：十一五国家科技支撑计划课题（2006BA105AOS）;国家自然科学基金（30571021）

摘　　要：目的为指导遗传咨询和临床治疗，对两例特纳综合征患者微小额外标记染色体（smallsupernumerarymarkerchromosome，sSMC）来源进行鉴定。方法高分辨染色体G显带和c显带核型分析；PCR扩增SRY基因；中期染色体荧光原位杂交。结果两例患者核型分析结果分别为45，X[29]／46，x，＋mar131]和45，X[713／46，x，＋rnar[29]。病例1SRY基因检测阳性，其sSMC来源于Y染色体，通过荧光原位杂交最终确定其核型为45，X[29]／46，X，idic（Y）（q10）[31]．ishidic（Y）（q10）（RP11-115H13×2）（SRY＋）。病例2sSMC来源于X染色体，核型最终确定为45，X[71]／46，X，r（x）（p11．23q21）[29]ishr（x）（p11．23q21）（AL591394．11＋，AC092268．3-）。结论联合应用多种遗传学检测技术，准确鉴定了两例特纳综合征患者微小额外标记染色体的来源，以正确指导临床诊断和治疗。Objective To identify the small supernumerary marker chromosomes （sSMC） and guide the genetic counseling and medical treatment in two patients with Turner syndrome. Methods High resolution GTG and C banding, SRY amplification by PCR and fluorescence in situ hybridization （FISH） on metaphase chromosomes were performed to the two patients. Results The karyotypes of the two patients were 45, X[29]/46,X, 4-mar[31] and45,X[71]/46,X, ＋mar[29] respectively. SRYtest indicatedSRY positive for patient 1, whose sSMC was originated from chromosome Y. The karyotype was confirmed as 45,X[29]/46,X,idic（Y）（q10）[31]. ish idic（Y）（q10）（RP]1115H13X2） （SRY＋） by FISH. While in patient 2, the sSMC was originated from chromosome X, whose karyotype was determined as 45, X[71]/ 46,X, r（X）（p11.23@1）[29], ish r（X） （p11.23q21）（AL591394.11＋,AC092268.3-）. Conclusion Using cytogenetic and molecular cytogenetic analyses, we have identified the sSMCs in two patients with Turner syndrome, which was helpful to the clinical diagnosis and treatment.

关 键 词：TURNER综合征 微小额外标记染色体 核型 荧光原位杂交 聚合酶链反应 

分 类 号：R4[医药卫生—临床医学] R5