摘要目的 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.

abstractsObjective 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.