Cytogenetic, genomic and interactome evaluation in an unusual case of a patient with XX/XY chimerism, hermaphroditism and association with situs inversus totalis

Abstract

We present a scarce case in which three pathologies converge: XX/XY chimerism, hermaphroditism with ovotestis and situs inversus totalis. She is a patient of mixed ethnicity, with predominantly Amerindian markers, who underwent a conventional cytogenetic study, FISH and DNA study of peripheral blood (mesoderm) and buccal mucosa scraping (ectoderm), additionally X-rays, hormonal tests and biopsy of the right gonad. The patient presents hypogonadism, female hypoplastic external sexual organs, and Tanner sexual development 1-2. X-rays show situs inversus totalis. The data for female and male hormones are altered. The karyotype showed the presence of two cell populations, XX and XY, confirmed with FISH and a study of the positive SRY gene. The evaluation of the DNA by numerical Arrays verified the presence of chromosomes X and Y; in the same way, gains and losses of essential genes related to the patient's phenotype were evidenced. We performed an in silico evaluation of the interactome of proteins involved in the clinical manifestations that reflect the alterations of the corresponding genes, which allowed us to make a genotype-phenotype correlation. In conclusion, the studies with a complete clinical, laboratory and genetic panel allowed us to define its alterations. Keywords: chimerism, 46, XX/46, XY, ovotestis, situs inversus totalis