CAJ | 학술논문

目的研究1例卵巢早衰患者额外的未知染色体,并探讨该异常核型与患者卵巢早衰发病的关系.方法应用核型分析、Q显带和荧光原位杂交技术确定额外异常染色体的来源.结果患者的额外未明染色体为i(Y)(q10),即Y长臂等臂染色体.患者核型为47,XX,+ish mar i(Y) (q10)(DXZ1-,SRY-,DYZ3+,DYZ1++,wcpY+).结论额外的Y长臂等臂染色体出现在女性核型中实属罕见.这一额外的异常Y染色体可能导致配子生成的减数分裂Ⅰ前期性染色体联会失败,引起大量的卵母细胞提前凋亡,导致患者发生卵巢早衰.荧光原位杂交技术等多种技术的综合应用对确诊染色体异常具有关键价值.
목적 연구1례란소조쇠환자액외적미지염색체,병탐토해이상핵형여환자란소조쇠발병적관계.방법 응용핵형분석、Q현대화형광원위잡교기술학정액외이상염색체적래원.결과 환자적액외미명염색체위i(Y)(q10),즉Y장비등비염색체.환자핵형위47,XX,+ish mar i(Y) (q10)(DXZ1-,SRY-,DYZ3+,DYZ1++,wcpY+).결론 액외적Y장비등비염색체출현재녀성핵형중실속한견.저일액외적이상Y염색체가능도치배자생성적감수분렬Ⅰ전기성염색체련회실패,인기대량적란모세포제전조망,도치환자발생란소조쇠.형광원위잡교기술등다충기술적종합응용대학진염색체이상구유관건개치.
Objective To investigate the origin of a rare supernumerary chromosome in a patient with premature ovarian failure (POF),and to explore the relationship between this abnormal karyotype and pathogenesis of POF.Methods GTG banding karyotyping,Q-banding and fluorescence in situ hybridization (FISH) were employed for the investigation.Results The extra chromosome was identified as i(Y) (q10) by FISH with a panel of sex chromosome probes.The patient's karyotype was described as:47,XX,+ ish mar i(Y)(q10)(DXZ1-,SRY-,DYZ3+,DYZ1++,wcpY+).Conclusion Co-occurrence of the supernumerary i(Y)(q10) with a female kryotype is extremely rare.This supernumerary chromosome may cause failure of X chromosomes synapsis during pachytene of meiosis I,which may trigger apoptosis of many oocytes and result in POF of the patient.Q-banding,FISH and multiple probes have been critical for accurate diagnosis of the unknown chromosome.