Analysis of a Yp11.2 region deletion in a Chinese female with Turner syndrome: A case report

In recent years, an increasing number of abnormal DNA genotypes caused by chromosomal ab-normalities have been revealed in cases of individual identification and sex-typing analysis, especially analyses of the amelogenin and short tandem repeat (STR) loci on the sex chromo-somes. Here, we report a 17-year-old female with Turner syndrome typed as male due to the presence of the amelogenin Y allele. The Y-STR haplotype showed allele dropout of three Y-STR loci (DYS549, DYS392 and DYS448). Further examination showed that the proband's karyotype was 45,X/46,X,del(Y) (q11.23), and the deletion of the Yp11.2 region was confirmed to encompass the observed microdeletion of the azoospermia factor (AZF)b + c region. One chal-lenge in forensics is inaccurate sex typing of individuals at the molecular level, particularly for individuals with chromosomal abnormalities. This case suggests that various medical evaluations, including the examination of sex-related manifestations, karyotypes, and clinical phenotypes of individuals, along with the detection of sex-typing gene markers will be beneficial to overcome the issues caused by cytogenetic disorders of the sex chromosomes.

Automated summary

In recent years, abnormalities in DNA genotypes caused by chromosomal abnormalities have been found in individual identification and sex-typing analysis. This case report discusses a 17-year-old female with Turner syndrome who was misgendered as male due to the presence of amelogenin Y allele. Further examination revealed chromosomal deletion and the microdeletion of the azoospermia factor (AZF)b + c region. Accurate sex typing of individuals with chromosomal abnormalities remains a challenge in forensics, and various medical evaluations are necessary to overcome the issues.