Abstract
birth defect disease all the world. The phenomenon of 46XX/46XY chimeras was reported very rarely. In many cases, they were diagnosed at birth, because of the presence of ambiguous external genitalia. A case of the phenomenon of 46XX/46XY chimeras has been described in this report. Case presentation: A 23-year-old woman at 19 weeks of gestation was transferred to our hospital due to fetal chromosomal abnormalities of antenatal diagnosis. There was no abnormality of appearance through past medical history and ultrasonic examination, and hormonal levels also were normal. The peripheral blood of the patient and umbilical cord blood of fetus were detected to analyze using karyotype analysis, it showed that abnormal 46XX/46XY chimera of patient and abnormal 46XYY karyotype of fetus observed during prenatal diagnosis performed. Then copy number variation (CNV) of her genome sequence showed the sex-determination gene SRY was completely lost on her Y chromosome, even including some other male characteristic gene also were lost. According to sequencing analysis results showed that Y chromosome CNV attribute to the normal female phenotype of 46XX/46XY chimerism. Discussion and Conclusions: The case presented here further describe a novel, fast target-next generation sequencing method, which devotes to find gene deletion or mutation of chromosome abnormality.
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