两例Turner综合征患者微小额外标记染色体来源鉴定

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(small supernumerary marker chromosome,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,X29]/46,X,+mar31]和45,X71]/46,X,+mar29].病例1 SRY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,X29]/46,X,idic(Y)(q10)31].ish idic(Y)(q10)(RP11-115 H13 ×2)(SRY+).病例2 sSMC来源于X染色体,核型最终确定为45,X713/46,X,r(X)(p11.23q21)29]ish r(X)(p11.23q21)(AL591394.11+,AC 092268.3-).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.

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

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.X29]/46,X,+mar31]and 45,X71]/46,X,+mar29]respectively.SRY test indicated SRYpositive for patient 1,whose sSMC was originated from chromosome Y.The karyotype was confirmed as 45,X29]/46,X,idic(Y)(q10)31].ish idic(Y)(q10)(RP11-115H13 × 2)(SRY+)by FISH.While in Datient 2,the sSMC was originated from chromosome X,whose karyotype was determined as 45,X71]/46,X,r(X)(p11.23q21)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.