CAJ | 학술논문

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,X[29]/46,X,+mar[31]和45,X[71]/46,X,+mar[29].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,X[29]/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,X[713/46,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.
목적 위지도유전자순화림상치료,대량례특납종합정환자미소액외표기염색체(small supernumerary marker chromosome,sSMC)래원진행감정.방법 고분변염색체G현대화C현대핵형분석;PCR확증SRY기인;중기염색체형광원위잡교.결과 량례환자핵형분석결과분별위45,X[29]/46,X,+mar[31]화45,X[71]/46,X,+mar[29].병례1 SRY기인검측양성,기sSMC래원우Y염색체,통과형광원위잡교최종학정기핵형위45,X[29]/46,X,idic(Y)(q10)[31].ish idic(Y)(q10)(RP11-115 H13 ×2)(SRY+).병례2 sSMC래원우X염색체,핵형최종학정위45,X[713/46,X,r(X)(p11.23q21)[29]ish r(X)(p11.23q21)(AL591394.11+,AC 092268.3-).결론 연합응용다충유전학검측기술,준학감정료량례특납종합정환자미소액외표기염색체적래원,이정학지도림상진단화치료.
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,+mar[31]and 45,X[71]/46,X,+mar[29]respectively.SRY test indicated SRYpositive 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)(RP11-115H13 × 2)(SRY+)by FISH.While in Datient 2,the sSMC was originated from chromosome X,whose karyotype was determined as 45,X[71]/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.