[Analysis of genetic etiology of a female with 47,XXY syndrome].

OBJECTIVE

To explore the genetic cause of a female case with intellectual development disorder.

METHODS

G banding karyotyping was performed for the patient. Following DNA extraction, the coding sequence of SRY gene was amplified with PCR and subjected to Sanger sequencing. qPCR was used to detect the copy numbers of the SRY gene.

RESULTS

The karyotype of the patient was 47,XXY. PCR and qPCR analyses of the SRY gene showed a large deletion with null copy number.

CONCLUSION

The female phenotype of the patient is probably due to deletion of the SRY gene on the Y chromosome. This is the first report of 47,XXY female case with deletion of the SRY gene in China.