Abstract：
OBJECTIVE: To explore the genetic basis for a patient with Disorders of sex development (DSD).
METHODS: A female patient who had presented at the Linyi People\'s Hospital due to primary amenorrhea on April 6, 2022 was selected as the study subject. Conventional chromosomal karyotyping, fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA), fluorescence quantitative PCR and Sanger sequencing were carried out for the patient.
RESULTS: The patient, a 14-year-old female, had featured short statue, multiple nevi, and primary amenorrhea. She was found to have a karyotype of 46,X,idic(Y)(p11.3)[59]/45,X[39]/47,X,idic(Y)(p11.3)×2[2]. The result of FISH assay was 46,X,der(Y).ish idic(Y)(p11.3)(SRY+)[59]/45,X[39]/47,X,der(Y)×2.ish idic(Y)(p11.3)(SRY+)[2]. That of CMA was arr[GRCh37](X)×1,(Y)×0-1,arr[GRCh37]Yp11.32(118552_472090)×1. The patient had no deletion in the AZF region of Y chromosome, and was negative for variant of SRY gene. Combining the above results, her molecular karyotype was determined as mos 46,X,idic(Y)(p11.32)[59]/45,X[39]/47,X,idic(Y)(p11.32)×2[2].ish 46,X,idic(Y)(p11.32)(DXZ1+,DYZ1++,DYZ3++,SRY+)[59]/45,X(DXZ1+,DYZ1-,DYZ3-,SRY-)[39]/47,X,der(Y)×2.ish idic(Y)(p11.32)(DXZ1+,DYZ1++,DYZ3++,SRY+)[2].arr[GRCh37](X)×1, (Y)×0-1，arr[GRCh37]Yp11.32(118552_472090)×1. The patient was diagnosed with mosaicism DSD with idic(Y)(p11.32).
CONCLUSIONS: The abnormal mosaicism karyotype probably underlay the DSD in this patient.
METHODS: A female patient who had presented at the Linyi People\'s Hospital due to primary amenorrhea on April 6, 2022 was selected as the study subject. Conventional chromosomal karyotyping, fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA), fluorescence quantitative PCR and Sanger sequencing were carried out for the patient.
RESULTS: The patient, a 14-year-old female, had featured short statue, multiple nevi, and primary amenorrhea. She was found to have a karyotype of 46,X,idic(Y)(p11.3)[59]/45,X[39]/47,X,idic(Y)(p11.3)×2[2]. The result of FISH assay was 46,X,der(Y).ish idic(Y)(p11.3)(SRY+)[59]/45,X[39]/47,X,der(Y)×2.ish idic(Y)(p11.3)(SRY+)[2]. That of CMA was arr[GRCh37](X)×1,(Y)×0-1,arr[GRCh37]Yp11.32(118552_472090)×1. The patient had no deletion in the AZF region of Y chromosome, and was negative for variant of SRY gene. Combining the above results, her molecular karyotype was determined as mos 46,X,idic(Y)(p11.32)[59]/45,X[39]/47,X,idic(Y)(p11.32)×2[2].ish 46,X,idic(Y)(p11.32)(DXZ1+,DYZ1++,DYZ3++,SRY+)[59]/45,X(DXZ1+,DYZ1-,DYZ3-,SRY-)[39]/47,X,der(Y)×2.ish idic(Y)(p11.32)(DXZ1+,DYZ1++,DYZ3++,SRY+)[2].arr[GRCh37](X)×1, (Y)×0-1，arr[GRCh37]Yp11.32(118552_472090)×1. The patient was diagnosed with mosaicism DSD with idic(Y)(p11.32).
CONCLUSIONS: The abnormal mosaicism karyotype probably underlay the DSD in this patient.
摘要：
目的：探讨性发育障碍（DSD）患者的遗传基础。
方法：选择2022年4月6日因原发性闭经到临沂市人民医院就诊的女性患者作为研究对象。常规染色体核型分析，荧光原位杂交（FISH），染色体微阵列分析（CMA），对患者进行荧光定量PCR和Sanger测序。
结果：患者，一个14岁的女性,有短雕像，多个痣，和原发性闭经.她的核型为46,X,idic(Y)(p11.3)[59]/45，X[39]/47，X，idic(Y)(p11.3)×2[2]。FISH检测结果为46，X，der(Y)。ishidic(Y)(p11.3)(SRY+)[59]/45，X[39]/47，X，der(Y)×2。ishidic(Y)(p11.3)(SRY+)[2]。CMA的参数为arr[GRCh37]（X）×1，（Y）×0-1，arr[GRCh37]Yp11.32（118552_472090）×1。患者Y染色体AZF区无缺失,SRY基因变异体阴性。结合以上结果，她的分子核型被确定为mos46，X，idic(Y)(p11.32)[59]/45，X[39]/47，X，idic(Y)(p11.32)×2[2]。ish46，X，idic(Y)(p11.32)(DXZ1+，DYZ1++,DYZ3++,SRY+)[59]/45,X(DXZ1+,DYZ1-,DYZ3-,SRY-)[39]/47,X,der(Y)×2。ishidic(Y)(p11.32)(DXZ1+，DYZ1++,DYZ3++,SRY+)[2]。arr[GRCh37](X)×1，(Y)×0-1，arr[GRCh37]Yp11.32(118552_472090)×1。患者被诊断为镶嵌性DSD与idic（Y）（p11.32）。
结论：异常镶嵌核型可能是该患者DSD的基础。
方法：选择2022年4月6日因原发性闭经到临沂市人民医院就诊的女性患者作为研究对象。常规染色体核型分析，荧光原位杂交（FISH），染色体微阵列分析（CMA），对患者进行荧光定量PCR和Sanger测序。
结果：患者，一个14岁的女性,有短雕像，多个痣，和原发性闭经.她的核型为46,X,idic(Y)(p11.3)[59]/45，X[39]/47，X，idic(Y)(p11.3)×2[2]。FISH检测结果为46，X，der(Y)。ishidic(Y)(p11.3)(SRY+)[59]/45，X[39]/47，X，der(Y)×2。ishidic(Y)(p11.3)(SRY+)[2]。CMA的参数为arr[GRCh37]（X）×1，（Y）×0-1，arr[GRCh37]Yp11.32（118552_472090）×1。患者Y染色体AZF区无缺失,SRY基因变异体阴性。结合以上结果，她的分子核型被确定为mos46，X，idic(Y)(p11.32)[59]/45，X[39]/47，X，idic(Y)(p11.32)×2[2]。ish46，X，idic(Y)(p11.32)(DXZ1+，DYZ1++,DYZ3++,SRY+)[59]/45,X(DXZ1+,DYZ1-,DYZ3-,SRY-)[39]/47,X,der(Y)×2。ishidic(Y)(p11.32)(DXZ1+，DYZ1++,DYZ3++,SRY+)[2]。arr[GRCh37](X)×1，(Y)×0-1，arr[GRCh37]Yp11.32(118552_472090)×1。患者被诊断为镶嵌性DSD与idic（Y）（p11.32）。
结论：异常镶嵌核型可能是该患者DSD的基础。
