Abstract:

Objective: To report a rare case of sex reversa female with 46,XY/47,XYY chimeric karotype, and to explore the clinical diagnosis and etiological analysis so as to provide a clinical genetic counseling. Methods: After the analysis of clinical features and family investigation of this case, the karyotype analysis of peripheral blood lymphocytes was used. Based on the next genome sequencing (NGS) and the copy number variation- sequencing (CNV-seq), the copy number variation of peripheral blood samples , sex determining gene (SRY) and AZF gene loci were detected. Results: The family investigation showed that the patient had X-linked recessive inheritance pattern. The clinical features were co-exodominant. The karyotype of this female patient was chimeric 46,XY[57%]/47,XYY[13%], and the detection of chromosomal copy number variation showed: Arr[hg19]46,XY[70%]/47,XYY[30%],Yp11.31-q11.223×3,dup(6)(q14.1). SRY gene was positive, and AZF gene was not missing. Conclusions: The 46,XY/47,XYY female sex reversal syndrome can be diagnosed by cytogenetic karyotype analysis and CNV-seq, and its genetic cause may be the abnormal expression of DAX-1 gene. The genetic counseling model for this sex reversal patient was integrated. This case report provides a useful clinical reference.

Key words: Karyotyping, Sex-determining region Y protein, Chimera, Genetic counseling, 46,XY/47,XYY female sex reversal, DAX-1 gene