72-73 Cignini Pietro.qxd:-

نویسندگان

  • Pietro Cignini
  • Nella Dugo
  • Claudio Giorlandino
  • Rosaria Gauci
  • Anna Spata
  • Stella Capriglione
  • Ester Valentina Cafà
چکیده

Objective: a fetus with a ring chromosome 20 is presented. Methods: at 16 weeks’ gestation, ultrasound examination evidenced no apparent structural malformation. Amniocentesis was performed for maternal anxiety. Results: chromosome analysis identified a ring chromosome 20 and array-CGH demonstrated that the ring including micro-deletion of the short arm in 20p13, that was extended for about 632.2 kb and a micro-deletion of the long arm in 20q13.33 region. Conclusion: this is the first case of a ring chromosome 20 diagnosed prenatally. This reinforces the importance of offering amniocentesis with a-CGH to make more accurate prenatal diagnosis.

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تاریخ انتشار 2012