The role of bilateral choroid plexus cysts in prenatal diagnosis of double trisomy (Klinefelter-Edwards Syndrome) Double trizomi (Klinefelter-Edwards Sendromu) prenatal tanisinda bilateral koroid pleksus kistlerinin rolu

Tunca Y., Ergun A., SOYSAL Y., Sefali M., Imirzalioglu N.

Jinekoloji ve Obstetri Bulteni, cilt.9, sa.2, ss.72-73, 2000 (Scopus) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 9 Sayı: 2
  • Basım Tarihi: 2000
  • Dergi Adı: Jinekoloji ve Obstetri Bulteni
  • Derginin Tarandığı İndeksler: Scopus
  • Sayfa Sayıları: ss.72-73
  • Anahtar Kelimeler: Choroid plexus cyst, Edwards syndrome, Klinefelter syndrome
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Here we present a double trisomy (Klinefelter-Edwards Syndrome) case, diagnosed prenatally. The patient came to our notice with bilateral choroid plexus cyst findings in prenatal ultrasonographic examination in 16(th) week of gestation and huge choroid plexus cysts observed. Other ultrasonographic findings were ventricular septal defect, right sided hydronephrosis (6.3 mm), clenched hands and unilateral talipes deformity. After the genetic counselling, amniocenthesis was performed in 16(th) week of gestation and the cytogenetic analyses revealed 48, XXY,+18 in all metaphases. Physical examination, skin biopsy cytogenetic analyses, pathologic and radiologic findings observed in post termination phase confirmed the Klinefelter and Edwards Syndromes. This case is a good model for prenatally huge choroid plexus cyst in the second trimester associated with Klinefelter syndrome and trisomy 18.