[Prenatal diagnosis and genetic analysis of a fetus with 2p13.3-p12 microdeletion].

OBJECTIVE

To provide prenatal diagnosis for a pregnant woman with a history of Williams-Beuren syndrome pregnancy.

METHODS

The karyotypes of the fetus and his parents were analyzed with routine G-banding. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH).

RESULTS

No karyotypic abnormality was detected for the fetus and his parents. aCGH has identified a de novo 5.09 Mb deletion at 2p13.3-p12 in the fetus.

CONCLUSION

The 2p13.3-p12 microdeletion carried by the fetus was de novo. As it has involved dosage-sensitive genes SPR and DCTN1, the deletion is probably pathogenic.