睾丸决定因素
基因复制
遗传学
性发育障碍
性反转
基因
表型
核型
微阵列
生物
染色体
微阵列分析技术
Y染色体
医学
基因表达
作者
Maja Oroz,Ana Vičić,Marija Požgaj Šepec,Helena Karnaš,Gordana Stipančić,Feodora Stipoljev
标识
DOI:10.1515/jpem-2022-0324
摘要
Abstract Objectives Approximately 90% of “XX males” are positive for SRY . However, there are isolated cases of sex reversal associated to other genes in male-determining pathway. Case presentation We describe a 1.3-old patient with 46,XX karyotype, male phenotypic gender and cryptorchidism. Microarray analysis revealed a de novo 273 kb duplication in the Xq27.1 region that contains SOX3 . FISH with probe specific to SOX3 confirmed a unique genomic location of this duplication, dislocated proximal to the centromere of the X chromosome. Conclusions This rare genetic condition was described in few other isolated cases that have associated SOX3 genetic rearrangements and DSD. Microarray and genome-wide-sequencing presents important part in routine diagnostics, and in delineation of other sex-determination-pathway genes in sex reversal disorders.
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